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Lookup Mutations by Publication
Aasly JO, Toft M, Fernandez-Mata I et al. Clinical features of LRRK2-associated Parkinson's... Ann Neurol 57: 762-5, 2005 (PubMed ID: 15852371) |
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|
LRRK2:
(Gly2019Ser)
|
|
ID: 68 | |
Abbas N, Lücking CB, Ricard S et al. A wide variety of mutations in the parkin gene are... Hum Mol Genet 8: 567-74, 1999 (PubMed ID: 10072423) |
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|
PARK2:
(ex4del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Trp74fs)
(Lys161Asn)
(Arg256Cys)
(Arg275Trp)
(Val380Leu)
(Asp394Asn)
(Thr415Asn)
(Trp453Stop)
|
|
ID: 203 | |
Abbruzzese G, Pigullo S, Schenone A et al. Does parkin play a role in the peripheral nervous... Mov Disord 19: 978-81, 2004 (PubMed ID: 15300670) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
|
|
ID: 246 | |
Abdalla-Carvalho CB, Santos-Rebouças CB, Guimarães BC et al. Genetic analysis of LRRK2 functional domains in Br... Eur J Neurol Epub: , 2010 (PubMed ID: 20443975) |
|
|
LRRK2:
(Arg1398)
(Thr1410Met)
(Gly2019Ser)
(Cys2139Ser)
(Tyr2189Cys)
|
|
ID: 425 | |
Abou-Sleiman PM, Muqit MM, McDonald NQ et al. A heterozygous effect for PINK1 mutations in Parki... Ann Neurol 60: 414-9, 2006 (PubMed ID: 16969854) |
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|
PINK1:
(Val317Ile)
(Ala339Thr)
(Ala383Thr)
(Gly411Ser)
(Tyr431His)
(Asn451Ser)
(Gln456Stop)
(Glu476Lys)
(Cys575Arg)
|
|
ID: 328 | |
Abou-Sleiman PM, Healy DG, Quinn N et al. The role of pathogenic DJ-1 mutations in Parkinson... Ann Neurol 54: 283-6, 2003 (PubMed ID: 12953260) |
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|
PARK7:
(Met26Ile)
(Gly78)
(Arg98Gln)
(Arg98)
(Asp149Ala)
(Ala167)
(c.*120insA)
(c.*203G>A)
|
|
ID: 364 | |
Adel S, Djarmati A, Kabakci K et al. Co-occurrence of restless legs syndrome and Parkin... Mov Disord 21: 258-63, 2006 (PubMed ID: 16161156) |
|
|
PARK2:
(ex7del (breakpoints not mapped))
|
|
ID: 386 | |
Aguiar P de C, Lessa PS, Godeiro C Jr et al. Genetic and environmental findings in early-onset... Mov Disord 23: 1228-33, 2008 (PubMed ID: 18464276) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 143 | |
Ahn TB, Kim SY, Kim JY et al. alpha-Synuclein gene duplication is present in spo... Neurology 70: 43-9, 2008 (PubMed ID: 17625105) |
|
|
SNCA:
(dupSNCA [A1])
(dupSNCA [A2])
(dupSNCA [A3])
|
|
ID: 20 | |
Alvarez V, Guisasola LM, Moreira VG et al. Early-onset Parkinson's disease associated with a... Neurosci Lett 313: 108-10, 2001 (PubMed ID: 11684352) |
|
|
PARK2:
(Arg392fs)
|
|
ID: 211 | |
Amboni M, Pellecchia MT, Cozzolino A et al. Cerebellar and pyramidal dysfunctions, palpebral p... Mov Disord 24: 303-5, 2009 (PubMed ID: 18973255) |
|
|
PARK2:
(ex2-4del (breakpoints not mapped))
(Thr240Met)
|
|
ID: 424 | |
An XK, Peng R, Li T et al. LRRK2 Gly2385Arg variant is a risk factor of Parki... Eur J Neurol 15: 301-5, 2008 (PubMed ID: 18201193) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 160 | |
Annesi G, Savettieri G, Pugliese P et al. DJ-1 mutations and parkinsonism-dementia-amyotroph... Ann Neurol 58: 803-7, 2005 (PubMed ID: 16240358) |
|
|
PARK7:
(Glu163Lys)
|
|
ID: 374 | |
Arias Vásquez A, Sleegers K, Dekker MC et al. A deletion in DJ-1 and the risk of dementia--a pop... Neurosci Lett 372: 196-9, 2004 (PubMed ID: 15542239) |
|
|
PARK2:
(Arg275Trp)
|
|
ID: 373 | |
Athanassiadou A, Voutsinas G, Psiouri L et al. Genetic analysis of families with Parkinson diseas... Am J Hum Genet 65: 555-8, 1999 (PubMed ID: 10417297) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 3 | |
Atsumi M, Li Y, Tomiyama H et al. A 62-year-old woman with early-onset Parkinson's d... Rinsho Shinkeigaku 46: 199-202, 2006 (PubMed ID: 16642930) |
|
|
PINK1:
(ex6-8del (breakpoints not mapped))
|
|
ID: 441 | |
Bardien S, Marsberg A, Keyser R et al. LRRK2 G2019S mutation: frequency and haplotype dat... J Neural Transm Epub: , 2010 (PubMed ID: 20544233) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 426 | |
Bardien S, Keyser R, Yako Y et al. Molecular analysis of the parkin gene in South Afr... Parkinsonism Relat Disord 15: 116-21, 2009 (PubMed ID: 18514563) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(Gln34Arg)
(IVS2+10C>T)
(Met192Leu)
(His200Gln)
(Cys238)
(Asp280Asn)
(Glu310Asp)
(Arg334Cys)
(Asp394Asn)
(Arg402Cys)
(Arg402)
(*16G>A)
(*94A>G)
(*103C>T)
|
|
ID: 279 | |
Barsottini OG, Felício AC, Aguiar Pde C et al. Clinical and molecular neuroimaging characteristic... Arq Neuropsiquiatr 67: 7-11, 2009 (PubMed ID: 19330201) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 188 | |
Bayrakli F, Bilguvar K, Mason CE et al. Rapid identification of disease-causing mutations... Hum Mutat 28: 1236-40, 2007 (PubMed ID: 17676595) |
|
|
PARK2:
(ex5del)
|
|
ID: 314 | |
Berg D, Schweitzer K, Leitner P et al. Type and frequency of mutations in the LRRK2 gene... Brain 128: 3000-11, 2005 (PubMed ID: 16251215) |
|
|
LRRK2:
(Arg793Met)
(Gln930Arg)
(Ser1096Cys)
(Leu1114)
(Ser1228Thr)
(Ile2020Thr)
|
|
ID: 44 | |
Bertoli-Avella AM, Giroud-Benitez JL, Akyol A et al. Novel parkin mutations detected in patients with e... Mov Disord 20: 424-31, 2005 (PubMed ID: 15584030) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8-10del (breakpoints not mapped))
(Arg42Pro)
(Arg402Cys)
(Thr415Asn)
(Cys418Arg)
(IVS11-3C>G)
|
|
ID: 252 | |
Biskup S, Mueller JC, Sharma M et al. Common variants of LRRK2 are not associated with s... Ann Neurol 58: 905-8, 2005 (PubMed ID: 16254973) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 66 | |
Biswas A, Sadhukhan T, Majumder S et al. Evaluation of PINK1 variants in Indian Parkinson's... Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19889566) |
|
|
PINK1:
(IVS1+14G>A)
(Pro179)
(Gly197)
(Arg246Gln)
(Arg276Gln)
(Thr282)
(c.*40G>A)
|
|
ID: 400 | |
Biswas A, Maulik M, Das SK; Indian Genome Variation Consortium et al. Parkin polymorphisms: risk for Parkinson's disease... Clin Genet 72: 484-6, 2007 (PubMed ID: 17935510) |
|
|
PARK2:
(Ser167Asn)
(Val380Leu)
|
|
ID: 312 | |
Biswas A, Gupta A, Naiya T et al. Molecular pathogenesis of Parkinson's disease: ide... Parkinsonism Relat Disord 12: 420-6, 2006 (PubMed ID: 16793319) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(Gln34Arg)
(Arg42Cys)
(Arg42His)
(Tyr134Cys)
(Arg334Cys)
|
|
ID: 260 | |
Bonifati V, Rohé CF, Breedveld GJ et al. Early-onset parkinsonism associated with PINK1 mut... Neurology 65: 87-95, 2005 (PubMed ID: 16009891) |
|
|
PINK1:
(c.-82G>A)
(c.-20C>T)
(Gln115Leu)
(Ala168Pro)
(Pro196Leu)
(Ser284)
(Trp437Stop)
(Gln456Stop)
(Glu476Lys)
(Asp525fs)
|
|
ID: 324 | |
Bonifati V, Rizzu P, van Baren MJ et al. Mutations in the DJ-1 gene associated with autosom... Science 299: 256-9, 2003 (PubMed ID: 12446870) |
|
|
PARK7:
(ex1-5del)
(Leu166Pro)
|
|
ID: 363 | |
Bonifati V, Lücking CB, Fabrizio E et al. Three parkin gene mutations in a sibship with auto... J Neurol Neurosurg Psychiatry 71: 531-4, 2001 (PubMed ID: 11561042) |
|
|
PARK2:
(ex3dup (breakpoints not mapped))
(ex3-9del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
|
|
ID: 212 | |
Bras J, Guerreiro R, Ribeiro M et al. Analysis of Parkinson disease patients from Portug... BMC Neurol 8: , 2008 (PubMed ID: 18211709) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 139 | |
Bras JM, Guerreiro RJ, Ribeiro MH et al. G2019S dardarin substitution is a common cause of... Mov Disord 20: 1653-5, 2005 (PubMed ID: 16149095) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 45 | |
Brooks J, Ding J, Simon-Sanchez J et al. Parkin and PINK1 mutations in early-onset Parkinso... J Med Genet 46: 375-81, 2009 (PubMed ID: 19351622) |
|
|
PARK2:
(ex5-9dup (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Ala82Glu)
(Pro113fs / ex3 Δ40bp)
(Cys166Tyr)
(Gln171Stop)
(Leu174)
(Arg234Gln)
(Asp243Asn)
(Arg275Trp)
(Arg402Cys)
(Thr415Asn)
(Cys431Phe)
(Pro437Leu)
(Met458Leu)
|
|
ID: 281 | |
Brooks JA, Houlden H, Melchers A et al. Mutational analysis of parkin and PINK1 in multipl... Neurobiol Aging Epub: , 2009 (PubMed ID: 20034704) |
|
|
PARK2:
(Arg42Cys)
(Arg234Gln)
(Pro437Leu)
|
|
ID: 401 | |
Brüggemann N, Mitterer M, Lanthaler AJ et al. Frequency of heterozygous Parkin mutations in heal... Parkinsonism Relat Disord 15: 425-9, 2009 (PubMed ID: 19162522) |
|
|
PARK2:
(ex2dup (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(c.-39G>T)
(c.-21G>T)
(Gln34fs)
(Leu261)
(Arg275Trp)
(Leu307)
(Val324fs)
(Arg402Cys)
(Gly429Glu)
(Met458Leu)
|
|
ID: 280 | |
Camargos ST, Dornas LO, Momeni P et al. Familial Parkinsonism and early onset Parkinson's... Mov Disord 24: 662-6, 2009 (PubMed ID: 19205068) |
|
|
LRRK2:
(Gln923His)
|
|
ID: 176 | |
Capecci M, Passamonti L, Annesi F et al. Chronic bilateral subthalamic deep brain stimulati... Mov Disord 19: 1450-2, 2004 (PubMed ID: 15390056) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
|
|
ID: 293 | |
Carmine Belin A, Westerlund M, Sydow O et al. Leucine-rich repeat kinase 2 (LRRK2) mutations in... Mov Disord 21: 1731-4, 2006 (PubMed ID: 16817197) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 69 | |
Cazeneuve C, Sân C, Ibrahim SA et al. A new complex homozygous large rearrangement of th... Neurogenetics 10: 265-70, 2009 (PubMed ID: 19214605) |
|
|
PINK1:
(ex4-8del (breakpoints not mapped))
|
|
ID: 349 | |
Chan DK, Ng PW, Mok V et al. LRRK2 Gly2385Arg mutation and clinical features in... J Neural Transm 115: 1275-7, 2008 (PubMed ID: 18523722) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 140 | |
Chan DK, Mok V, Ng PW et al. PARK2 mutations and clinical features in a Chinese... J Neural Transm 115: 715-9, 2008 (PubMed ID: 18188499) |
|
|
PARK2:
(ex6del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(IVS4+10T>C)
(Cys441Arg)
(Asp460fs)
|
|
ID: 271 | |
Chang TY, Kuo HC, Lu CS et al. Analysis of the LRRK2 Gly2385Arg variant in Alzhei... Parkinsonism Relat Disord 16: 28-30, 2010 (PubMed ID: 19640773) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 416 | |
Change N, Mercier G, Lucotte G. Genetic screening of the G2019S mutation of the LR... Genet Test 12: 333-9, 2008 (PubMed ID: 18666856) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 141 | |
Chartier-Harlin MC, Kachergus J, Roumier C et al. Alpha-synuclein locus duplication as a cause of fa... Lancet 364: 1167-9, 2004 (PubMed ID: 15451224) |
|
|
SNCA:
(dupSNCA [P59])
|
|
ID: 15 | |
Chaudhary S, Behari M, Dihana M et al. Parkin mutations in familial and sporadic Parkinso... Parkinsonism Relat Disord 12: 239-45, 2006 (PubMed ID: 16500134) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(Ala31Asp)
(Gln34Arg)
(Arg42Cys)
(Arg104Trp)
(Leu272)
(Arg334Cys)
(Ala339)
(Gly359Asp)
(Arg402Cys)
|
|
ID: 387 | |
Chen R, Gosavi NS, Langston JW et al. Parkin mutations are rare in patients with young-o... Parkinsonism Relat Disord 9: 309-12, 2003 (PubMed ID: 12781599) |
|
|
PARK2:
(Gln100His)
(Pro113fs / ex3 Δ40bp)
(His124)
(Arg271Ser)
(Ala339Ser)
|
|
ID: 237 | |
Chen-Plotkin AS, Yuan W, Anderson C et al. Corticobasal syndrome and primary progressive apha... Neurology 70: 521-7, 2008 (PubMed ID: 17914064) |
|
|
LRRK2:
(Arg793Met)
(Leu1165Pro)
(Gly2019Ser)
|
|
ID: 173 | |
Chien HF, Rohé CF, Costa MD et al. Early-onset Parkinson's disease caused by a novel... Neurogenetics 7: 13-9, 2006 (PubMed ID: 16328510) |
|
|
PARK2:
(IVS1+1G>A)
|
|
ID: 261 | |
Chishti MA, Bohlega S, Ahmed M et al. T313M PINK1 mutation in an extended highly consang... Arch Neurol 63: 1483-5, 2006 (PubMed ID: 17030667) |
|
|
PINK1:
(Thr313Met)
|
|
ID: 329 | |
Choi JM, Woo MS, Ma HI et al. Analysis of PARK genes in a Korean cohort of early... Neurogenetics 9: 263-9, 2008 (PubMed ID: 18704525) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 8 | |
Chung EJ, Ki CS, Lee WY et al. Clinical features and gene analysis in Korean pati... Arch Neurol 63: 1170-4, 2006 (PubMed ID: 16908747) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex11dup (breakpoints not mapped))
|
|
ID: 262 | |
Chung SJ, Park HK, Ki CS et al. Marked diurnal fluctuation and rest benefit in a p... Mov Disord 23: 624-6, 2008 (PubMed ID: 18228570) |
|
|
PARK2:
(ex1-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
|
|
ID: 298 | |
Civitelli D, Tarantino P, Nicoletti G et al. LRRK2 G6055A mutation in Italian patients with fam... Clin Genet 71: 367-70, 2007 (PubMed ID: 17470139) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 132 | |
Clarimon J, Johnson J, Djaldetti R et al. Mutation of the Parkin gene in a Persian family: c... Mov Disord 20: 887-90, 2005 (PubMed ID: 15852366) |
|
|
PARK2:
(ex4-6del (breakpoints not mapped))
|
|
ID: 253 | |
Clarimon J, Johnson J, Dogu O et al. Defining the ends of Parkin exon 4 deletions in tw... Am J Med Genet B Neuropsychiatr Genet. 133B: 120-3, 2005 (PubMed ID: 15635662) |
|
|
PARK2:
(ex4del)
(partial ex4del)
|
|
ID: 313 | |
Clarimón J, Pagonabarraga J, Paisán-Ruíz C et al. Tremor dominant parkinsonism: Clinical description... Mov Disord 23: 518-23, 2008 (PubMed ID: 18098275) |
|
|
LRRK2:
(Val2390Met)
|
|
ID: 142 | |
Clarimón J, Eerola J, Hellström O et al. Assessment of PINK1 (PARK6) polymorphisms in Finni... Neurobiol Aging 27: 906-7, 2006 (PubMed ID: 16046032) |
|
|
PINK1:
(IVS1-7A>G)
(Ala340Thr)
(Asn521Thr)
|
|
ID: 330 | |
Clark LN, Wang Y, Karlins E et al. Frequency of LRRK2 mutations in early- and late-on... Neurology 67: 1786-91, 2006 (PubMed ID: 17050822) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 70 | |
Clark LN, Afridi S, Karlins E et al. Case-control study of the parkin gene in early-ons... Arch Neurol 63: 548-52, 2006 (PubMed ID: 16606767) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(c.-21G>T)
(Arg42Pro)
(Pro113fs / ex3 Δ40bp)
(Ser167Asn)
(Met192Leu)
(Leu261)
(Arg275Trp)
(Val380Leu)
(Asp394Asn)
|
|
ID: 288 | |
Clark LN, Afridi S, Mejia-Santana H et al. Analysis of an early-onset Parkinson's disease coh... Mov Disord 19: 796-800, 2004 (PubMed ID: 15254937) |
|
|
PARK7:
(Arg98Gln)
(Ala104Thr)
(Ala171Ser)
|
|
ID: 366 | |
Cossu G, van Doeselaar M, Deriu M et al. LRRK2 mutations and Parkinson's disease in Sardini... Parkinsonism Relat Disord 13: 17-21, 2007 (PubMed ID: 17064949) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 102 | |
Covy JP, Yuan W, Waxman EA et al. Clinical and pathological characteristics of patie... Mov Disord 24: 32-9, 2009 (PubMed ID: 19006185) |
|
|
LRRK2:
(Arg793Met)
(Leu1165Pro)
(Gly2019Ser)
|
|
ID: 177 | |
Criscuolo C, Volpe G, De Rosa A et al. PINK1 homozygous W437X mutation in a patient with... Mov Disord 21: 1265-7, 2009 (PubMed ID: 16700027) |
|
|
PINK1:
(Trp437Stop)
|
|
ID: 331 | |
Dächsel JC, Ross OA, Mata IF et al. Lrrk2 G2019S substitution in frontotemporal lobar... Acta Neuropathol 113: 601-6, 2007 (PubMed ID: 17151837) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 138 | |
Dächsel JC, Mata IF, Ross OA et al. Digenic parkinsonism: investigation of the synergi... Neurosci Lett 410: 80-4, 2006 (PubMed ID: 17095157) |
|
|
LRRK2:
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 106 | |
De Rosa A, Criscuolo C, Mancini P et al. Genetic screening for LRRK2 gene G2019S mutation i... Parkinsonism Relat Disord 15: 242-4, 2009 (PubMed ID: 18621566) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 184 | |
De Rosa A, Volpe G, Marcantonio L et al. Neurophysiological evidence of corticospinal tract... J Neurol 253: 275-9, 2006 (PubMed ID: 16502212) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
|
|
ID: 297 | |
Deng H, Le W, Shahed J et al. Mutation analysis of the parkin and PINK1 genes in... Neurosci Lett 430: 18-22, 2008 (PubMed ID: 18068301) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
|
|
ID: 272 | |
Deng H, Le WD, Hunter CB et al. A family with Parkinson disease, essential tremor,... Arch Neurol 64: 421-4, 2007 (PubMed ID: 17353387) |
|
|
PARK2:
(ex3-6del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
|
|
ID: 267 | |
Deng H, Le W, Guo Y et al. Genetic analysis of LRRK2 mutations in patients wi... J Neurol Sci 251: 102-6., 2006 (PubMed ID: 17097110) |
|
|
LRRK2:
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 71 | |
Deng H, Le WD, Hunter CB et al. Heterogeneous phenotype in a family with compound... Arch Neurol 63: 273-7, 2006 (PubMed ID: 16476817) |
|
|
PARK2:
(ex5-6del (breakpoints not mapped))
(Thr240Met)
|
|
ID: 263 | |
Deng H, Le W, Guo Y et al. Genetic and clinical identification of Parkinson's... Ann Neurol 57: 933-4, 2005 (PubMed ID: 15929036) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 60 | |
Di Fonzo A, Wu-Chou YH, Lu CS et al. A common missense variant in the LRRK2 gene, Gly23... Neurogenetics 7: 133-8, 2006 (PubMed ID: 16633828) |
|
|
LRRK2:
(Ala419Val)
(Pro755Leu)
(Met1869Val)
(Glu1874Stop)
(Gly2385Arg)
|
|
ID: 86 | |
Di Fonzo A, Tassorelli C, De Mari M et al. Comprehensive analysis of the LRRK2 gene in sixty... Eur J Hum Genet 14: 322-31, 2006 (PubMed ID: 16333314) |
|
|
LRRK2:
(Leu119Pro)
(IVS9-10C>A)
(IVS19-9_8insT)
(Ile1371Val)
(IVS30+12delT)
(Arg1441Cys)
(Arg1514Gln)
(Pro1542Ser)
(Met1646Thr)
(IVS37-9A>G)
(Gly2019Ser)
(IVS47-9delT)
(Gly2385)
|
|
ID: 72 | |
Di Fonzo A, Rohé CF, Ferreira J et al. A frequent LRRK2 gene mutation associated with aut... Lancet 365: 412-5, 2005 (PubMed ID: 15680456) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 41 | |
Djaldetti R, Hassin-Baer S, Farrer MJ et al. Clinical characteristics of Parkinson's disease am... J Neural Transm 115: 1279-84, 2008 (PubMed ID: 18665323) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 169 | |
Djarmati A, Hedrich K, Svetel M et al. Heterozygous PINK1 mutations: a susceptibility fac... Mov Disord 21: 1526-30, 2006 (PubMed ID: 16755580) |
|
|
PINK1:
(Lys186Asn)
(Pro209Leu)
(Met318Leu)
|
|
ID: 332 | |
Djarmati A, Hedrich K, Svetel M et al. Detection of Parkin (PARK2) and DJ1 (PARK7) mutati... Hum Mutat 23: , 2004 (PubMed ID: 15108293) |
|
|
PARK2:
(ex7del (breakpoints not mapped))
(Pro437Leu)
|
|
ID: 247 | |
Dogu O, Johnson J, Hernandez D et al. A consanguineous Turkish family with early-onset P... Mov Disord 19: 812-6, 2004 (PubMed ID: 15254940) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
|
|
ID: 248 | |
Doostzadeh J, Tetrud JW, Allen-Auerbach M et al. Novel features in a patient homozygous for the L34... Parkinsonism Relat Disord 13: 359-61, 2007 (PubMed ID: 17055324) |
|
|
PINK1:
(Leu347Pro)
|
|
ID: 341 | |
Eerola J, Launes J, Hellström O et al. Apolipoprotein E (APOE), PARKIN and catechol-O-met... Neurosci Lett 330: 296-8, 2002 (PubMed ID: 12270650) |
|
|
PARK2:
(Ser167Asn)
(Arg366Trp)
(Val380Leu)
|
|
ID: 289 | |
Ephraty L, Porat O, Israeli D et al. Neuropsychiatric and cognitive features in autosom... Mov Disord 22: 566-9, 2007 (PubMed ID: 17260336) |
|
|
PINK1:
(Arg246Stop)
|
|
ID: 358 | |
Farrer M, Stone J, Mata IF et al. LRRK2 mutations in Parkinson disease. Neurology 65: 738-40, 2005 (PubMed ID: 16157908) |
|
|
LRRK2:
(Arg793Met)
(Leu1114)
(Met1869Thr)
(Gly2019Ser)
|
|
ID: 46 | |
Farrer M, Kachergus J, Forno L et al. Comparison of kindreds with parkinsonism and alpha... Ann Neurol 55: 174-9, 2004 (PubMed ID: 14755720) |
|
|
SNCA:
(tripSNCA [F-I])
|
|
ID: 14 | |
Farrer M, Chan P, Chen R et al. Lewy bodies and parkinsonism in families with park... Ann Neurol 50: 293-300, 2001 (PubMed ID: 11558785) |
|
|
PARK2:
(Pro113fs / ex3 Δ40bp)
|
|
ID: 236 | |
Farrer MJ, Stone JT, Lin CH et al. Lrrk2 G2385R is an ancestral risk factor for Parki... Parkinsonism Relat Disord 13: 89-92, 2007 (PubMed ID: 17222580) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 127 | |
Ferreira JJ, Guedes LC, Rosa MM et al. High prevalence of LRRK2 mutations in familial and... Mov Disord 22: 1194-201, 2007 (PubMed ID: 17469194) |
|
|
LRRK2:
(Arg1441His)
(Gly2019Ser)
|
|
ID: 103 | |
Floris G, Cannas A, Solla P et al. Genetic analysis for five LRRK2 mutations in a Sar... Parkinsonism Relat Disord 15: 277-80, 2009 (PubMed ID: 18805725) |
|
|
LRRK2:
(Arg1441Cys)
(Gly2019Ser)
|
|
ID: 178 | |
Foroud T, Uniacke SK, Liu L et al. Heterozygosity for a mutation in the parkin gene l... Neurology 60: 796-801, 2003 (PubMed ID: 12629236) |
|
|
PARK2:
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(ex10del (breakpoints not mapped))
(ex10dup (breakpoints not mapped))
(Gln34fs)
(Glu79Stop)
(Pro113fs / ex3 Δ40bp)
(Ser167Asn)
(Met192Val)
(Lys211Asn)
(Thr240Met)
(Arg275Trp)
(Ala339)
(Pro437Leu)
|
|
ID: 390 | |
Fuchs J, Nilsson C, Kachergus J et al. Phenotypic variation in a large Swedish pedigree d... Neurology 68: 916-22, 2007 (PubMed ID: 17251522) |
|
|
SNCA:
(tripSNCA [F-I])
(dupSNCA [Fu-J])
|
|
ID: 18 | |
Funalot B, Nichols WC, Pérez-Tur J et al. Genetic screening for two LRRK2 mutations in Frenc... Genet Test 10: 290-3, 2006 (PubMed ID: 17253937) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 73 | |
Funayama M, Li Y, Tomiyama H et al. Leucine-rich repeat kinase 2 G2385R variant is a r... Neuroreport 18: 273-5, 2007 (PubMed ID: 17314670) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 128 | |
Funayama M, Hasegawa K, Ohta E et al. An LRRK2 mutation as a cause for the parkinsonism... Ann Neurol 57: 918-21, 2005 (PubMed ID: 15880653) |
|
|
LRRK2:
(Ile2020Thr)
|
|
ID: 47 | |
Fung HC, Chen CM, Hardy J et al. A common genetic factor for Parkinson disease in e... BMC Neurol 6: 47, 2006 (PubMed ID: 17187665) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 104 | |
Fung HC, Chen CM, Hardy J et al. Analysis of the PINK1 gene in a cohort of patients... Neurosci Lett 394: 33-6, 2006 (PubMed ID: 16257123) |
|
|
PINK1:
(Arg407Gln)
|
|
ID: 333 | |
Gaig C, Ezquerra M, Martí MJ et al. Screening for the LRRK2 G2019S and codon-1441 muta... J Neurol Sci 270: 94-8, 2008 (PubMed ID: 18353371) |
|
|
LRRK2:
(Arg1441)
(Gly2019Ser)
|
|
ID: 144 | |
Gaig C, Martí MJ, Ezquerra M et al. G2019S LRRK2 mutation causing Parkinson's disease... J Neurol Neurosurg Psychiatry 78: 626-8, 2007 (PubMed ID: 17210620) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 105 | |
Gaig C, Ezquerra M, Marti MJ et al. LRRK2 mutations in Spanish patients with Parkinson... Arch Neurol 63: 377-82, 2006 (PubMed ID: 16533964) |
|
|
LRRK2:
(Arg1441Gly)
(Arg1441Cys)
(Gly2019Ser)
|
|
ID: 74 | |
Gao L, Gómez-Garre P, Díaz-Corrales FJ et al. Prevalence and clinical features of LRRK2 mutation... Eur J Neurol Epub: , 2009 (PubMed ID: 19473361) |
|
|
LRRK2:
(Asp1420Asn)
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 193 | |
Gelmetti V, Ferraris A, Brusa L et al. Late onset sporadic Parkinson's disease caused by... Mov Disord 23: 881-5, 2008 (PubMed ID: 18307263) |
|
|
PINK1:
(Ala244Gly)
(Val317Ile)
|
|
ID: 344 | |
Ghione I, Di Fonzo A, Saladino F et al. Parkin polymorphisms and environmental exposure: d... Neurotoxicology 28: 698-701, 2007 (PubMed ID: 17335904) |
|
|
PARK2:
(Ser167Asn)
(Val380Leu)
(Asp394Asn)
|
|
ID: 290 | |
Giasson BI, Covy JP, Bonini NM et al. Biochemical and pathological characterization of L... Ann Neurol 59: 315-22, 2006 (PubMed ID: 16437584) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 107 | |
Gilks WP, Abou-Sleiman PM, Gandhi S et al. A common LRRK2 mutation in idiopathic Parkinson's... Lancet 365: 415-6, 2005 (PubMed ID: 15680457) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 42 | |
Giordana MT, D'Agostino C, Albani G et al. Neuropathology of Parkinson's disease associated w... Mov Disord 22: 275-8, 2007 (PubMed ID: 17149743) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 109 | |
Godeiro C Jr, Aguiar PM, Felício AC et al. PINK1 polymorphism IVS1-7 A-->G, exposure to envir... Neurosci Lett 469: 155-8, 2010 (PubMed ID: 19944740) |
|
|
PINK1:
(Asn410)
|
|
ID: 395 | |
Godeiro-Junior C, de Carvalho-Aguiar PM, Felício AC et al. PINK1 mutations in a Brazilian cohort of early-ons... Mov Disord Epub: , 2009 (PubMed ID: 19562775) |
|
|
PINK1:
(IVS1-7A>G)
(Val293)
(IVS4-5G>A)
(Asn410)
(Asn521Thr)
|
|
ID: 350 | |
Goldstein DS, Imrich R, Peckham E et al. Neurocirculatory and nigrostriatal abnormalities i... Neurology 69: 1580-4, 2007 (PubMed ID: 17625107) |
|
|
LRRK2:
(Thr2356Ile)
|
|
ID: 137 | |
Goldwurm S, Zini M, Mariani L et al. Evaluation of LRRK2 G2019S penetrance: relevance f... Neurology 68: 1141-3, 2007 (PubMed ID: 17215492) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 133 | |
Goldwurm S, Zini M, Di Fonzo A et al. LRRK2 G2019S mutation and Parkinson's disease: a c... Parkinsonism Relat Disord 12: 410-9, 2006 (PubMed ID: 16750929) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 87 | |
Goldwurm S, Di Fonzo A, Simons EJ et al. The G6055A (G2019S) mutation in LRRK2 is frequent... J Med Genet 42: e65, 2005 (PubMed ID: 16272257) |
|
|
LRRK2:
(Arg1441Cys)
(Gly2019Ser)
|
|
ID: 61 | |
Gómez-Esteban JC, Lezcano E, Zarranz JJ et al. Outcome of bilateral deep brain subthalamic stimul... Neurosurgery 62: 857-62, 2008 (PubMed ID: 18496192) |
|
|
LRRK2:
(Arg1441Gly)
|
|
ID: 170 | |
González-Fernández MC, Lezcano E, Ross OA et al. Lrrk2-associated parkinsonism is a major cause of... Parkinsonism Relat Disord 13: 509-15, 2007 (PubMed ID: 17540608) |
|
|
LRRK2:
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 110 | |
Gorostidi A, Ruiz-Martínez J, de Munain AL et al. LRRK2 G2019S and R1441G mutations associated with... Neurogenetics 10: 157-9, 2009 (PubMed ID: 19020907) |
|
|
LRRK2:
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 145 | |
Gosal D, Lynch T, Ross OA et al. Global distribution and reduced penetrance: Lrrk2... Mov Disord 22: 291-2, 2007 (PubMed ID: 17089395) |
|
|
LRRK2:
(Arg1441Cys)
|
|
ID: 111 | |
Gosal D, Ross OA, Wiley J et al. Clinical traits of LRRK2-associated Parkinson's di... Parkinsonism Relat Disord 11: 349-52, 2005 (PubMed ID: 16102999) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 67 | |
Gouider-Khouja N, Larnaout A, Amouri R et al. Autosomal recessive parkinsonism linked to parkin... Parkinsonism Relat Disord 9: 247-51, 2003 (PubMed ID: 12781588) |
|
|
PARK2:
(Gln34fs)
|
|
ID: 238 | |
Grimes DA, Racacho L, Han F et al. LRRK2 screening in a Canadian Parkinson's disease... Can J Neurol Sci 34: 336-8, 2007 (PubMed ID: 17803033) |
|
|
LRRK2:
(IVS37-9A>G)
|
|
ID: 112 | |
Groen JL, Kawarai T, Toulina A et al. Genetic association study of PINK1 coding polymorp... Neurosci Lett 372: 226-9, 2004 (PubMed ID: 15542245) |
|
|
PINK1:
(Leu63)
(Ala340Thr)
(Asn521Thr)
|
|
ID: 351 | |
Guo JF, Zhang XW, Nie LL et al. Mutation analysis of Parkin, PINK1 and DJ-1 genes... J Neurol Epub: , 2010 (PubMed ID: 20146068) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex11del (breakpoints not mapped))
(Gln34fs)
(Cys238fs)
|
|
ID: 402 | |
Guo JF, Xiao B, Liao B et al. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13... Mov Disord 23: 2074-9, 2008 (PubMed ID: 18785233) |
|
|
PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(Gln34fs)
(Cys253Phe)
(Cys323fs)
(Cys441Arg)
|
|
ID: 273 | |
Håkansson A, Belin AC, Stiller C et al. Investigation of genes related to familial forms o... Parkinsonism Relat Disord 14: 520-2, 2008 (PubMed ID: 18321758) |
|
|
PARK2:
(Ala82Glu)
|
|
ID: 274 | |
Hassin-Baer S, Laitman Y, Azizi E et al. The leucine rich repeat kinase 2 (LRRK2) G2019S su... J Neurol 256: 483-7, 2009 (PubMed ID: 19412725) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 185 | |
Hatano Y, Li Y, Sato K et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56: 424-7, 2004 (PubMed ID: 15349870) |
|
|
PINK1:
(Glu239Stop)
(Arg246Stop)
(His271Gln)
(Leu347Pro)
(Glu417Gly)
(Arg492Stop)
|
|
ID: 320 | |
Hattori N, Kitada T, Matsumine H et al. Molecular genetic analysis of a novel Parkin gene... Ann Neurol 44: 935-41, 1998 (PubMed ID: 9851438) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(Ser167Asn)
(Gly179fs)
|
|
ID: 198 | |
Hattori N, Matsumine H, Asakawa S et al. Point mutations (Thr240Arg and Gln311Stop) [correc... Biochem Biophys Res Commun. 1998 Aug 28 249: 754-8, 1998 (PubMed ID: 9731209) |
|
|
PARK2:
(Thr240Arg)
(Gln311Stop)
|
|
ID: 201 | |
Haubenberger D, Bonelli S, Hotzy C et al. A novel LRRK2 mutation in an Austrian cohort of pa... Mov Disord 22: 1640-3, 2007 (PubMed ID: 17523199) |
|
|
LRRK2:
(Ser973Asn)
(Arg1514Gln)
|
|
ID: 113 | |
Haugarvoll K, Rademakers R, Kachergus JM et al. Lrrk2 R1441C parkinsonism is clinically similar to... Neurology 70: 1456-60, 2008 (PubMed ID: 18337586) |
|
|
LRRK2:
(Arg1441Cys)
|
|
ID: 167 | |
Hayashi S, Wakabayashi K, Ishikawa A et al. An autopsy case of autosomal-recessive juvenile pa... Mov Disord 15: 884-8, 2000 (PubMed ID: 11009195) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
|
|
ID: 299 | |
Healy DG, Falchi M, O'Sullivan SS et al. Phenotype, genotype, and worldwide genetic penetra... Lancet Neurol 7: 583-90, 2008 (PubMed ID: 18539534) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 146 | |
Healy DG, Abou-Sleiman PM, Gibson JM et al. PINK1 (PARK6) associated Parkinson disease in Irel... Neurology 63: 1486-8, 2004 (PubMed ID: 15505171) |
|
|
PINK1:
(Arg147His)
(Pro305Leu)
|
|
ID: 346 | |
Healy DG, Abou-Sleiman PM, Jain S et al. Assessment of a DJ-1 (PARK7) polymorphism in Finni... Neurology 62: 2335, 2004 (PubMed ID: 15210917) |
|
|
PARK7:
(Arg98Gln)
|
|
ID: 369 | |
Hedrich K, Winkler S, Hagenah J et al. Recurrent LRRK2 (Park8) mutations in early-onset P... Mov Disord 21: 1506-10, 2006 (PubMed ID: 16758483) |
|
|
LRRK2:
(Ala1151Thr)
(Arg1441Cys)
(Gly2019Ser)
|
|
ID: 75 | |
Hedrich K, Hagenah J, Djarmati A et al. Clinical spectrum of homozygous and heterozygous P... Arch Neurol 63: 833-8, 2006 (PubMed ID: 16769864) |
|
|
PINK1:
(Gln456Stop)
|
|
ID: 334 | |
Hedrich K, Eskelson C, Wilmot B et al. Distribution, type, and origin of Parkin mutations... Mov Disord 19: 1146-57, 2004 (PubMed ID: 15390068) |
|
|
PARK2:
(ex5del (breakpoints not mapped))
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Pro133del)
(Arg275Trp)
|
|
ID: 249 | |
Hedrich K, Djarmati A, Schäfer N et al. DJ-1 (PARK7) mutations are less frequent than Park... Neurology 62: 389-94, 2004 (PubMed ID: 14872018) |
|
|
PARK7:
(ex5-7del (breakpoints not mapped))
(IVS5+2_12del)
|
|
ID: 370 | |
Hedrich K, Marder K, Harris J et al. Evaluation of 50 probands with early-onset Parkins... Neurology 58: 1239-46, 2002 (PubMed ID: 11971093) |
|
|
PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(c.-21G>T)
(Gln34fs)
(Arg42Pro)
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Met192Leu)
(Arg256Cys)
(Leu261)
(Arg275Trp)
(Gly430Asp)
(Pro437Leu)
|
|
ID: 230 | |
Hedrich K, Kann M, Lanthaler AJ et al. The importance of gene dosage studies: mutational... Hum Mol Genet 10: 1649-56, 2001 (PubMed ID: 11487568) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(Ala82Glu)
(Val324fs)
(Lys349fs)
|
|
ID: 213 | |
Hering R, Strauss KM, Tao X et al. Novel homozygous p.E64D mutation in DJ1 in early o... Hum Mutat 24: 321-9, 2004 (PubMed ID: 15365989) |
|
|
PARK7:
(Glu64Asp)
(Val186)
|
|
ID: 371 | |
Hernandez D, Paisan Ruiz C, Crawley A et al. The dardarin G 2019 S mutation is a common cause o... Neurosci Lett 389: 137-9, 2005 (PubMed ID: 16102903) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 62 | |
Hernandez DG, Paisán-Ruíz C, McInerney-Leo A et al. Clinical and positron emission tomography of Parki... Ann Neurol 57: 453-6, 2005 (PubMed ID: 15732108) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 83 | |
Hertz JM, Ostergaard K, Juncker I et al. Low frequency of Parkin, Tyrosine Hydroxylase, and... Eur J Neurol 13: 385-90, 2006 (PubMed ID: 16643317) |
|
|
PARK2:
(ex2-4del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex5-8dup (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex11del (breakpoints not mapped))
(ex11dup (breakpoints not mapped))
(Arg33Gln)
(Lys211Asn)
(Arg234Gln)
(Pro437Leu)
|
|
ID: 264 | |
Hoenicka J, Vidal L, Morales B et al. Molecular findings in familial Parkinson disease i... Arch Neurol 59: 966-70, 2002 (PubMed ID: 12056932) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Asn52fs)
(Val56Glu)
(Cys212Tyr)
|
|
ID: 223 | |
Hu CJ, Sung SM, Liu HC et al. Polymorphisms of the parkin gene in sporadic Parki... Eur Neurol 44: 90-3, 2000 (PubMed ID: 10965160) |
|
|
PARK2:
(Ser167Asn)
(Arg366Trp)
(Val380Leu)
|
|
ID: 291 | |
Hu FY, Hu WB, Liu L et al. Lack of replication of a previously reported assoc... Neurosci Lett 479: 31-3, 2010 (PubMed ID: 20478361) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 438 | |
Huang Y, Halliday GM, Vandebona H et al. Prevalence and clinical features of common LRRK2 m... Mov Disord 22: 982-9, 2007 (PubMed ID: 17427941) |
|
|
LRRK2:
(Arg1441His)
(Ala1442Pro)
(Gly2019Ser)
|
|
ID: 114 | |
Hulihan MM, Ishihara-Paul L, Kachergus J et al. LRRK2 Gly2019Ser penetrance in Arab-Berber patient... Lancet Neurol 7: 591-4, 2008 (PubMed ID: 18539535) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 147 | |
Ibáñez P, Lesage S, Janin S et al. Alpha-synuclein gene rearrangements in dominantly... Arch Neurol 66: 102-8, 2009 (PubMed ID: 19139307) |
|
|
SNCA:
(tripSNCA [FPD-014])
(dupSNCA [FPD-131])
(dupSNCA[ FPD-321])
(dupSNCA [FPD-410])
(dupSNCA [FPD-437])
|
|
ID: 24 | |
Ibáñez P, Lesage S, Lohmann E et al. Mutational analysis of the PINK1 gene in early-ons... Brain 129: 686-94, 2006 (PubMed ID: 16401616) |
|
|
PINK1:
(Lys24fs)
(Cys125Gly)
(Glu240Lys)
(Leu369Pro)
(Ala383Thr)
(Gly386Ala)
(Gly409Val)
(Gln456Stop)
(Arg492Stop)
(Lys520fs)
(Cys549fs)
|
|
ID: 335 | |
Ibáñez P, Bonnet AM, Débarges B et al. Causal relation between alpha-synuclein gene dupli... Lancet 364: 1169-71, 2004 (PubMed ID: 15451225) |
|
|
SNCA:
(dupSNCA [P1])
(dupSNCA[ P2])
|
|
ID: 16 | |
Ikeuchi T, Kakita A, Shiga A et al. Patients homozygous and heterozygous for SNCA dupl... Arch Neurol 65: 514-9, 2008 (PubMed ID: 18413475) |
|
|
SNCA:
(dupSNCA [I])
|
|
ID: 21 | |
Illarioshkin SN, Shadrina MI, Slominsky PA et al. A common leucine-rich repeat kinase 2 gene mutatio... Eur J Neurol 14: 413-7, 2007 (PubMed ID: 17388990) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 115 | |
Illarioshkin SN, Periquet M, Rawal N et al. Mutation analysis of the parkin gene in Russian fa... Mov Disord 18: 914-9, 2003 (PubMed ID: 12889082) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(IVS1+1G>A)
(Gln34fs)
|
|
ID: 239 | |
Infante J, Berciano J, Sánchez-Juan P et al. Pseudo-orthostatic and resting leg tremor in a lar... Mov Disord 24: 144-7, 2009 (PubMed ID: 18951541) |
|
|
PARK2:
(Trp445Stop)
|
|
ID: 283 | |
Infante J, Rodríguez E, Combarros O et al. LRRK2 G2019S is a common mutation in Spanish patie... Neurosci Lett 395: 224-6, 2006 (PubMed ID: 16298482) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 49 | |
Inzelberg R, Hattori N, Mizuno Y. Dopaminergic dysfunction in unrelated, asymptomati... Neurology 65: 1843, 2005 (PubMed ID: 16344545) |
|
|
PARK2:
(ex7del (breakpoints not mapped))
(Arg366Trp)
|
|
ID: 388 | |
Inzelberg R, Hattori N, Nisipeanu P et al. Camptocormia, axial dystonia, and parkinsonism: ph... Neurology 60: 1393-4., 2003 (PubMed ID: 12707457) |
|
|
PARK2:
(Gln34fs)
|
|
ID: 300 | |
Isaias IU, Benti R, Goldwurm S et al. Striatal dopamine transporter binding in Parkinson... Mov Disord 21: 1144-7, 2006 (PubMed ID: 16671078) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 108 | |
Ishihara L, Gibson RA, Warren L et al. Screening for Lrrk2 G2019S and clinical comparison... Mov Disord 22: 55-61, 2007 (PubMed ID: 17115391) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 116 | |
Ishihara L, Warren L, Gibson R et al. Clinical features of Parkinson disease patients wi... Arch Neurol 63: 1250-4, 2006 (PubMed ID: 16966502) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 88 | |
Ishihara-Paul L, Hulihan MM, Kachergus J et al. PINK1 mutations and parkinsonism. Neurology 71: 896-902, 2008 (PubMed ID: 18685134) |
|
|
PINK1:
(Gln115Leu)
(Gln129fs)
(Gln129Stop)
(Thr145Met)
(Arg152Trp)
(Gly227Arg)
(Gly440Glu)
|
|
ID: 397 | |
Jeon BS, Kim JM, Lee DS et al. An apparently sporadic case with parkin gene mutat... Arch Neurol 58: 988-9, 2001 (PubMed ID: 11405814) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
|
|
ID: 214 | |
Johnson J, Paisán-Ruíz C, Lopez G et al. Comprehensive screening of a North American Parkin... Neurodegener Dis 4: 386-91, 2007 (PubMed ID: 17622782) |
|
|
LRRK2:
(IVS19+5_8delGTAA)
(Pro1542Ser)
(Met1646Thr)
(Gly2019Ser)
(Thr2356Ile)
|
|
ID: 117 | |
Kachergus J, Mata IF, Hulihan M et al. Identification of a novel LRRK2 mutation linked to... Am J Hum Genet 76: 672-80, 2005 (PubMed ID: 15726496) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 50 | |
Kann M, Jacobs H, Mohrmann K et al. Role of parkin mutations in 111 community-based pa... Ann Neurol 51: 621-5, 2002 (PubMed ID: 12112109) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2trip (breakpoints not mapped))
(ex2-5del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex9dup (breakpoints not mapped))
(Pro37Leu)
(Lys211Asn)
(Arg275Trp)
(Thr351Pro)
|
|
ID: 224 | |
Kay DM, Moran D, Moses L et al. Heterozygous parkin point mutations are as common... Ann Neurol 61: 47-54, 2007 (PubMed ID: 17187375) |
|
|
PARK2:
(c.-53C>T)
(c.-44C>A)
(Ala82Glu)
(Ser167Asn)
(Thr173Met)
(Leu174)
(Thr177)
(Val244Ile)
(Ser255)
(Leu307)
(Val380Leu)
(Asp394Asn)
(Arg402Cys)
(Pro437Leu)
|
|
ID: 285 | |
Kay DM, Zabetian CP, Factor SA et al. Parkinson's disease and LRRK2: frequency of a comm... Mov Disord 21: 519-23, 2006 (PubMed ID: 16250030) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 89 | |
Kay DM, Kramer P, Higgins D et al. Escaping Parkinson's disease: a neurologically hea... Mov Disord 20: 1077-8, 2005 (PubMed ID: 16001413) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 63 | |
Keyser RJ, Lombard D, Veikondis R et al. Analysis of exon dosage using MLPA in South Africa... Neurogenetics Epub: , 2009 (PubMed ID: 20013014) |
|
|
PARK2:
(ex2dup (breakpoints not mapped))
(ex2-3dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex9del (breakpoints not mapped))
|
|
ID: 392 | |
Keyser RJ, van der Merwe L, Venter M et al. Identification of a novel functional deletion vari... BMC Med Genet 10: 105, 2009 (PubMed ID: 19825160) |
|
|
PARK7:
(c.-122_-107del)
|
|
ID: 396 | |
Khan NL, Jain S, Lynch JM et al. Mutations in the gene LRRK2 encoding dardarin (PAR... Brain 128: 2786-96, 2005 (PubMed ID: 16272164) |
|
|
LRRK2:
(Tyr1699Cys)
(Arg1941His)
(Gly2019Ser)
(Thr2356Ile)
|
|
ID: 51 | |
Khan NL, Horta W, Eunson L et al. Parkin disease in a Brazilian kindred: Manifesting... Mov Disord 20: 479-84, 2005 (PubMed ID: 15641013) |
|
|
PARK2:
(partial ex4del)
|
|
ID: 301 | |
Ki CS, Stavrou EF, Davanos N et al. The Ala53Thr mutation in the alpha-synuclein gene... Clin Genet 71: 471-3, 2007 (PubMed ID: 17489854) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 7 | |
Kim JM, Lee JY, Kim HJ et al. The LRRK2 G2385R variant is a risk factor for spor... Parkinsonism Relat Disord 16: 85-88, 2010 (PubMed ID: 19854095) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 417 | |
Kim JS, Lee KS, Kim YI et al. Homozygous exon 4 deletion in parkin gene in a Kor... Yonsei Med J 44: 336-9, 2003 (PubMed ID: 12728478) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
|
|
ID: 240 | |
Kitada T, Asakawa S, Matsumine H et al. Positional cloning of the autosomal recessive juve... Parkinsonism Relat Disord 5: 163-8, 1999 (PubMed ID: 18591135) |
|
|
PARK2:
(ex3-7del (breakpoints not mapped))
|
|
ID: 226 | |
Kitada T, Asakawa S, Hattori N et al. Mutations in the parkin gene cause autosomal reces... Nature 392: 605-8, 1998 (PubMed ID: 9560156) |
|
|
PARK2:
(ex3-7del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
|
|
ID: 197 | |
Klein C, Djarmati A, Hedrich K et al. PINK1, Parkin, and DJ-1 mutations in Italian patie... Eur J Hum Genet 13: 1086-93, 2005 (PubMed ID: 15970950) |
|
|
PARK2:
(Lys211Asn)
(Arg275Trp)
|
|
ID: 254 | |
Klein C, Pramstaller PP, Kis B et al. Parkin deletions in a family with adult-onset, tre... Ann Neurol 48: 65-71, 2000 (PubMed ID: 10894217) |
|
|
PARK2:
(ex7del (breakpoints not mapped))
(Val324fs)
|
|
ID: 206 | |
Kobayashi T, Matsumine H, Zhang J et al. Pseudo-autosomal dominant inheritance of PARK2: tw... J Neurol Sci 207: 11-7, 2003 (PubMed ID: 12614925) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
|
|
ID: 241 | |
Kobayashi T, Wang M, Hattori N et al. Exonic deletion mutations of the Parkin gene among... Parkinsonism Relat Disord 6: 129-131, 2000 (PubMed ID: 10817951) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
|
|
ID: 207 | |
Koziorowski D, Hoffman-Zacharska D, Slawek J et al. Low frequency of the PARK2 gene mutations in Polis... Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19628420) |
|
|
PARK2:
(ex2dup (breakpoints not mapped))
(ex4-7del (breakpoints not mapped))
(Gln34fs)
(Ser167Asn)
(Val380Leu)
(Asp394Asn)
(Arg402Cys)
|
|
ID: 315 | |
Krüger R, Kuhn W, Müller T et al. Ala30Pro mutation in the gene encoding alpha-synuc... Nat Genet 18: 106-8, 1998 (PubMed ID: 9462735) |
|
|
SNCA:
(Ala30Pro)
|
|
ID: 9 | |
Kumazawa R, Tomiyama H, Li Y et al. Mutation analysis of the PINK1 gene in 391 patient... Arch Neurol 65: 802-8, 2008 (PubMed ID: 18541801) |
|
|
PINK1:
(Ala78Val)
(Pro196fs)
(Asp297fs)
(Thr313Met)
(Met342Val)
(Cys388Arg)
(Trp437Arg)
(Val482Met)
(Asn542Ser)
|
|
ID: 345 | |
Kunishige M, Mitsui T, Kuroda Y et al. Expanding phenotype and clinical heterogeneity in... Eur Neurol 51: 183-5, 2004 (PubMed ID: 15073448) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
|
|
ID: 302 | |
Kuroda Y, Mitsui T, Akaike M et al. Homozygous deletion mutation of the parkin gene in... J Neurol Neurosurg Psychiatry 71: 231-4, 2001 (PubMed ID: 11459900) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
|
|
ID: 215 | |
Latourelle JC, Sun M, Lew MF et al. The Gly2019Ser mutation in LRRK2 is not fully pene... BMC Med 6: , 2008 (PubMed ID: 18986508) |
|
|
LRRK2:
(Arg1441Cys)
(Gly2019Ser)
|
|
ID: 148 | |
Lee MJ, Mata IF, Lin CH et al. Genotype-phenotype correlates in Taiwanese patient... Mov Disord 24: 104-8, 2009 (PubMed ID: 19006224) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(Tyr267His)
(Cys441Arg)
|
|
ID: 284 | |
Leroy E, Anastasopoulos D, Konitsiotis S et al. Deletions in the Parkin gene and genetic heterogen... Hum Genet 103: 424-7, 1998 (PubMed ID: 9856485) |
|
|
PARK2:
(ex5-7del (breakpoints not mapped))
|
|
ID: 202 | |
Lesage S, Condroyer C, Lannuzel A et al. Molecular analyses of the LRRK2 gene in European a... J Med Genet Epub: , 2009 (PubMed ID: 19357115) |
|
|
LRRK2:
(c.-30G>C)
(Ser52Phe)
(Leu119Pro)
(His275)
(Glu334Lys)
(Asn363Ser)
(Val674)
(Ile810Val)
(His1216Arg)
(Arg1325Gln)
(Ile1371Val)
(Thr1410Met)
(IVS30+12delT)
(Arg1441His)
(Pro1542Ser)
(IVS32+14G>A)
(Met1646Thr)
(Gly2019Ser)
(IVS46-14T>A)
(IVS46-8delT)
(Gly2385)
|
|
ID: 179 | |
Lesage S, Belarbi S, Troiano A et al. Is the common LRRK2 G2019S mutation related to dys... Neurology 71: 1550-2, 2008 (PubMed ID: 18981379) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 166 | |
Lesage S, Lohmann E, Tison F et al. Gene symbol: PARK2. Disease: Parkinsonism, juvenil... Hum Genet 123: 114, 2008 (PubMed ID: 18386379) |
|
|
PARK2:
(Asn273Ser)
|
|
ID: 409 | |
Lesage S, Lohmann E, Tison F et al. Gene symbol: PARK2. Disease: Parkinsonism, juvenil... Hum Genet 123: 114, 2008 (PubMed ID: 18386383) |
|
|
PARK2:
(Ile298Ser)
|
|
ID: 410 | |
Lesage S, Lohmann E, Tison F et al. Rare heterozygous parkin variants in French early-... J Med Genet 45: 43-6, 2008 (PubMed ID: 17766365) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-4dup (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-7del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Ala82Glu)
(Arg256Cys)
(Asn273Ser)
(Arg275Trp)
(Cys289Gly)
(Ile298Ser)
(Gly328Glu)
|
|
ID: 275 | |
Lesage S, Leclere L, Lohmann E et al. Frequency of the LRRK2 G2019S mutation in siblings... Neurodegener Dis 4: 195-8, 2007 (PubMed ID: 17596714) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 134 | |
Lesage S, Janin S, Lohmann E et al. LRRK2 exon 41 mutations in sporadic Parkinson dise... Arch Neurol 64: 425-30, 2007 (PubMed ID: 17353388) |
|
|
LRRK2:
(Tyr2006His)
(Gly2019Ser)
(Thr2031Ser)
|
|
ID: 118 | |
Lesage S, Magali P, Lohmann E et al. Deletion of the parkin and PACRG gene promoter in... Hum Mutat 28: 27-32, 2007 (PubMed ID: 17068781) |
|
|
PARK2:
(prom+ex1del (breakpoints not mapped))
|
|
ID: 308 | |
Lesage S, Dürr A, Tazir M et al. LRRK2 G2019S as a cause of Parkinson's disease in... N Engl J Med 354: 422-3, 2006 (PubMed ID: 16436781) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 90 | |
Lesage S, Ibanez P, Lohmann E et al. G2019S LRRK2 mutation in French and North African... Ann Neurol 58: 784-7, 2005 (PubMed ID: 16240353) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 64 | |
Lesage S, Leutenegger AL, Ibanez P et al. LRRK2 haplotype analyses in European and North Afr... Am J Hum Genet 77: 330-2, 2005 (PubMed ID: 16145815) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 65 | |
Leutenegger AL, Salih MA, Ibáñez P et al. Juvenile-onset Parkinsonism as a result of the fir... Arch Neurol 63: 1257-61, 2006 (PubMed ID: 16966503) |
|
|
PINK1:
(Ala217Asp)
|
|
ID: 336 | |
Li C, Ting Z, Qin X et al. The prevalence of LRRK2 Gly2385Arg variant in Chin... Mov Disord 22: 2439-43, 2007 (PubMed ID: 17960808) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 129 | |
Li X, Kitami T, Wang M et al. Geographic and ethnic differences in frequencies o... Parkinsonism Relat Disord 11: 485-91, 2005 (PubMed ID: 16269266) |
|
|
PARK2:
(Ser167Asn)
(Leu272Ile)
(Arg366Trp)
(Val380Leu)
(Asp394Asn)
|
|
ID: 255 | |
Li Y, Tomiyama H, Sato K et al. Clinicogenetic study of PINK1 mutations in autosom... Neurology 64: 1955-7, 2005 (PubMed ID: 15955953) |
|
|
PINK1:
(ex6-8del (breakpoints not mapped))
(Cys388Arg)
|
|
ID: 327 | |
Lin CH, Tzen KY, Yu CY et al. LRRK2 mutation in familial Parkinson's disease in... J Biomed Sci 15: 661-7, 2008 (PubMed ID: 18523869) |
|
|
LRRK2:
(Arg1441His)
(Gly2385Arg)
|
|
ID: 149 | |
Lockhart PJ, Lincoln S, Hulihan M et al. DJ-1 mutations are a rare cause of recessively inh... J Med Genet 41: , 2004 (PubMed ID: 14985393) |
|
|
PARK7:
(Arg98Gln)
|
|
ID: 372 | |
Lohmann E, Thobois S, Lesage S et al. A multidisciplinary study of patients with early-o... Neurology 72: 110-6, 2009 (PubMed ID: 18987353) |
|
|
PARK2:
(prom+ex1del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Arg275Trp)
(Cys441Arg)
|
|
ID: 411 | |
Lu CS, Chang HC, Weng YH et al. Analysis of the LRRK2 Gly2385Arg variant in primar... Parkinsonism Relat Disord 14: 393-6, 2008 (PubMed ID: 18450497) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 174 | |
Lu CS, Wu-Chou YH, van Doeselaar M et al. The LRRK2 Arg1628Pro variant is a risk factor for... Neurogenetics 9: 271-6, 2008 (PubMed ID: 18716801) |
|
|
LRRK2:
(Arg1628Pro)
|
|
ID: 162 | |
Lu CS, Chou YH, Weng YH et al. Genetic and DAT imaging studies of familial parkin... J Neural Transm Suppl 70: 235-40, 2006 (PubMed ID: 17017535) |
|
|
LRRK2:
(Ile2012Thr)
|
|
ID: 98 | |
Lu CS, Wu JC, Tsai CH et al. Clinical and genetic studies on familial parkinson... Mov Disord 16: 164-6, 2001 (PubMed ID: 11215581) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
|
|
ID: 229 | |
Lücking CB, Chesneau V, Lohmann E et al. Coding polymorphisms in the parkin gene and suscep... Arch Neurol 60: 1253-6, 2003 (PubMed ID: 12975291) |
|
|
PARK2:
(Ser167Asn)
(Val380Leu)
(Asp394Asn)
|
|
ID: 294 | |
Lücking CB, Bonifati V, Periquet M et al. Pseudo-dominant inheritance and exon 2 triplicatio... Neurology 57: 924-7, 2001 (PubMed ID: 11552035) |
|
|
PARK2:
(ex2trip (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
|
|
ID: 216 | |
Lücking CB, Abbas N, Dürr A et al. Homozygous deletions in parkin gene in European an... Lancet 352: 1355-6, 1998 (PubMed ID: 9802278) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
|
|
ID: 204 | |
Macedo MG, Verbaan D, Fang Y et al. Genotypic and phenotypic characteristics of Dutch... Mov Disord 24: 196-203, 2009 (PubMed ID: 18973254) |
|
|
LRRK2:
(Ser1228Thr)
|
|
ID: 192 | |
Madegowda RH, Kishore A, Anand A. Mutational screening of the parkin gene among Sout... J Neurol Neurosurg Psychiatry 76: 1588-90, 2005 (PubMed ID: 16227559) |
|
|
PARK2:
(ex8-9del (breakpoints not mapped))
(Arg42His)
(Thr240Met)
(Arg334Cys)
(Ala339Ser)
(Gly359Asp)
(Glu444Gln)
|
|
ID: 256 | |
Marongiu R, Ferraris A, Ialongo T et al. PINK1 heterozygous rare variants: prevalence, sign... Hum Mutat 29: 565, 2008 (PubMed ID: 18330912) |
|
|
PINK1:
(Leu67Phe)
(Arg68Pro)
(Arg98Trp)
(Ile111Ser)
(Ala124Val)
(Thr145Met)
(Lys186Asn)
(Thr257Ile)
(Leu268Val)
(Arg276Gln)
(Pro296Leu)
(Val317Ile)
(Pro322Leu)
(Ala339Thr)
(Ala383Thr)
(Gly395Val)
(23bp del ex7)
(Ile442Thr)
(Gln456Stop)
(Glu476Lys)
(Asp525Asn)
(Asp537Thr)
|
|
ID: 404 | |
Marongiu R, Brancati F, Antonini A et al. Whole gene deletion and splicing mutations expand... Hum Mut 28: , 2007 (PubMed ID: 17154281) |
|
|
PINK1:
(delPINK1)
(23bp del ex7)
|
|
ID: 360 | |
Marongiu R, Ghezzi D, Ialongo T et al. Frequency and phenotypes of LRRK2 G2019S mutation... Mov Disord 21: 1232-5, 2006 (PubMed ID: 16622859) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 91 | |
Marras C, Klein C, Lang AE et al. LRRK2 and Parkin mutations in a family with parkin... Neurobiol Aging Epub: , 2008 (PubMed ID: 18644660) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 150 | |
Martí-Massó JF, Ruiz-Martínez J, Bolaño MJ et al. Neuropathology of Parkinson's disease with the R14... Mov Disord 24: 1998-2001, 2009 (PubMed ID: 19735093) |
|
|
LRRK2:
(Arg1441Gly)
|
|
ID: 422 | |
Martínez HR, González-González H, Cantú-Martínez L et al. PARKIN-coding polymorphisms are not associated wit... Neurosci Lett 468: 264-6, 2010 (PubMed ID: 19909784) |
|
|
PARK2:
(Ser167Asn)
(Arg366Trp)
(Val380Leu)
(Asp394Asn)
|
|
ID: 407 | |
Maruyama M, Ikeuchi T, Saito M et al. Novel mutations, pseudo-dominant inheritance, and... Ann Neurol 48: 245-50, 2000 (PubMed ID: 10939576) |
|
|
PARK2:
(ex2-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(Arg33Stop)
(Cys431Phe)
|
|
ID: 208 | |
Mata IF, Cosentino C, Marca V et al. LRRK2 mutations in patients with Parkinson's disea... Parkinsonism Relat Disord 15: 370-3, 2009 (PubMed ID: 18980856) |
|
|
LRRK2:
(Arg1441Gly)
(Gly2019Ser)
|
|
ID: 180 | |
Mata IF, Ross OA, Kachergus J et al. LRRK2 mutations are a common cause of Parkinson's... Eur J Neurol 13: 391-4, 2006 (PubMed ID: 16643318) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 76 | |
Mata IF, Kachergus JM, Taylor JP et al. Lrrk2 pathogenic substitutions in Parkinson's dise... Neurogenetics 6: 171-7, 2005 (PubMed ID: 16172858) |
|
|
LRRK2:
(Leu153)
(Lys182)
(Ser461)
(Asn551Lys)
(Ile723Val)
(Lys1423)
(Arg1441Gly)
(Arg1441Cys)
(Arg1441His)
(Arg1514Gln)
(Pro1542Ser)
(Arg1628Pro)
(Lys1637)
(Met1646Thr)
(Ser1647Thr)
(Gly1819)
(Met1869Thr)
(Gly2019Ser)
(Glu2108)
(Gly2170)
(Gly2385Arg)
(Gly2385)
|
|
ID: 56 | |
Mata IF, Taylor JP, Kachergus J et al. LRRK2 R1441G in Spanish patients with Parkinson's... Neurosci Lett 382: 309-11, 2005 (PubMed ID: 15925109) |
|
|
LRRK2:
(Arg1441Gly)
|
|
ID: 53 | |
Mata IF, Alvarez V, Coto E et al. Homozygous partial genomic triplication of the par... Neurosci Lett 380: 257-9, 2005 (PubMed ID: 15862897) |
|
|
PARK2:
(ex2-4trip (breakpoints not mapped))
|
|
ID: 257 | |
Mata IF, Alvarez V, García-Moreira V et al. Single-nucleotide polymorphisms in the promoter re... Neurosci Lett 329: 149-52, 2002 (PubMed ID: 12165399) |
|
|
PARK2:
(Ser167Asn)
(Asp394Asn)
|
|
ID: 307 | |
Mellick GD, Siebert GA, Funayama M et al. Screening PARK genes for mutations in early-onset... Parkinsonism Relat Disord 15: 105-9, 2009 (PubMed ID: 18486522) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 151 | |
Mellick GD, Buchanan DD, Hattori N et al. The parkin gene S/N167 polymorphism in Australian... Parkinsonism Relat Disord 7: 89-91, 2001 (PubMed ID: 11248588) |
|
|
PARK2:
(Ser167Asn)
|
|
ID: 217 | |
Michell AW, Barker RA, Raha SK et al. A case of late onset sporadic Parkinson's disease... J Neurol Neurosurg Psychiatry 76: 596-7, 2005 (PubMed ID: 15774457) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 6 | |
Mizuta I, Satake W, Nakabayashi Y et al. Multiple candidate gene analysis identifies alpha-... Hum Mol Genet 15: 1151-8, 2006 (PubMed ID: 16500997) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 431 | |
Möller JC, Rissling I, Mylius V et al. The prevalence of the G2019S and R1441C/G/H mutati... Eur J Neurol 15: 743-5, 2008 (PubMed ID: 18484993) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 152 | |
Moro E, Volkmann J, König IR et al. Bilateral subthalamic stimulation in Parkin and PI... Neurology 70: 1186-91, 2008 (PubMed ID: 18378882) |
|
|
PARK2:
(ex2-5del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(ex5-12del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7-9del (breakpoints not mapped))
(ex8dup (breakpoints not mapped))
(Gln34fs)
(Arg256Cys)
(Arg348fs)
(Arg402Cys)
|
|
ID: 354 | |
Mueller JC, Fuchs J, Hofer A et al. Multiple regions of alpha-synuclein are associated... Ann Neurol 57: 535-41, 2005 (PubMed ID: 15786467) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 432 | |
Munhoz RP, Teive HA, Francisco AN et al. Unilateral pallidotomy in a patient with parkinson... Mov Disord 24: 791-2, 2009 (PubMed ID: 19012346) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 190 | |
Munhoz RP, Wakutani Y, Marras C et al. The G2019S LRRK2 mutation in Brazilian patients wi... Mov Disord 23: 290-4, 2008 (PubMed ID: 17999435) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 161 | |
Muñoz E, Tolosa E, Pastor P et al. Relative high frequency of the c.255delA parkin ge... J Neurol Neurosurg Psychiatry 73: 582-4, 2002 (PubMed ID: 12397156) |
|
|
PARK2:
(ex5-6del (breakpoints not mapped))
(Val15Met)
(Asn52fs)
(Ala291fs)
|
|
ID: 225 | |
Muñoz E, Pastor P, Martí MJ et al. A new mutation in the parkin gene in a patient wit... Neurosci Lett 289: 66-8, 2000 (PubMed ID: 10899410) |
|
|
PARK2:
(Ala291fs)
|
|
ID: 209 | |
Myhre R, Steinkjer S, Stormyr A et al. Significance of the parkin and PINK1 gene in Jorda... BMC Neurol 8: , 2008 (PubMed ID: 19087301) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
(Val17)
(Gln34Arg)
|
|
ID: 311 | |
Myhre R, Toft M, Kachergus J et al. Multiple alpha-synuclein gene polymorphisms are as... Acta Neurol Scand 118: 320-7, 2008 (PubMed ID: 18485051) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 433 | |
Nakaso K, Adachi Y, Yasui K et al. Detection of compound heterozygous deletions in th... Neurosci Lett 400: 44-7, 2006 (PubMed ID: 16517073) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
|
|
ID: 265 | |
Nichols WC, Elsaesser VE, Pankratz N et al. LRRK2 mutation analysis in Parkinson disease famil... Neurology 69: 1737-44, 2007 (PubMed ID: 17804834) |
|
|
LRRK2:
(Glu10Lys)
(Glu334Lys)
(Ser461)
(Leu488)
(Ser827)
(Gln1111His)
(Ile1192Val)
(Pro1542Ser)
(Met1646Thr)
(Leu1795Phe)
(Gly2019Ser)
|
|
ID: 120 | |
Nichols WC, Marek DK, Pauciulo MW et al. R1514Q substitution in Lrrk2 is not a pathogenic P... Mov Disord 22: 254-7, 2007 (PubMed ID: 17149721) |
|
|
LRRK2:
(Arg1514Gln)
|
|
ID: 119 | |
Nichols WC, Pankratz N, Hernandez D et al. Genetic screening for a single common LRRK2 mutati... Lancet 365: 410-2, 2005 (PubMed ID: 15680455) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 43 | |
Nichols WC, Pankratz N, Uniacke SK et al. Linkage stratification and mutation analysis at th... J Med Genet 39: 489-92, 2002 (PubMed ID: 12114481) |
|
|
PARK2:
(ex2-3dup (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Lys211Asn)
(Arg275Trp)
(Pro437Leu)
|
|
ID: 235 | |
Nishioka K, Ross OA, Ishii K et al. Expanding the clinical phenotype of SNCA duplicati... Mov Disord Epub: , 2009 (PubMed ID: 19562770) |
|
|
SNCA:
(dupSNCA [A])
(dupSNCA [B])
|
|
ID: 380 | |
Nishioka K, Hayashi S, Farrer MJ et al. Clinical heterogeneity of alpha-synuclein gene dup... Ann Neurol 59: 298-309, 2006 (PubMed ID: 16358335) |
|
|
SNCA:
(dupSNCA [A])
(dupSNCA [B])
|
|
ID: 17 | |
Nisipeanu P, Inzelberg R, Abo Mouch S et al. Parkin gene causing benign autosomal recessive juv... Neurology 56: 1573-5, 2001 (PubMed ID: 11402119) |
|
|
PARK2:
(Gln34fs)
|
|
ID: 218 | |
Nisipeanu P, Inzelberg R, Blumen SC et al. Autosomal-recessive juvenile parkinsonism in a Jew... Neurology 53: 1602-4, 1999 (PubMed ID: 10534280) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
|
|
ID: 205 | |
Nuytemans K, Meeus B, Crosiers D et al. Relative contributions of simple mutations versus... Hum Mutat Epub: , 2009 (PubMed ID: 19405094) |
|
|
LRRK2:
(Leu119Pro)
(Ala211Val)
(Val366Met)
(Ala419Val)
(Arg506Gln)
(Ile1006Met)
(IVS30-6C>T)
(Arg1514Gln)
(Pro1542Ser)
(Met1646Thr)
(Gly2385Arg)
(Glu2490fs)
|
|
ID: 25 | |
Nuytemans K, Rademakers R, Theuns J et al. Founder mutation p.R1441C in the leucine-rich repe... Eur J Hum Genet 16: 471-9, 2008 (PubMed ID: 18197194) |
|
|
LRRK2:
(Arg1325Gln)
(Arg1441Cys)
(Lys1468Glu)
(Arg1483Gln)
(Tyr2189Cys)
|
|
ID: 153 | |
Ohta E, Hasegawa K, Gasser T et al. Independent occurrence of I2020T mutation in the k... Neurosci Lett 417: 21-3, 2007 (PubMed ID: 17395370) |
|
|
LRRK2:
(Ile2020Thr)
|
|
ID: 121 | |
Okubadejo N, Britton A, Crews C et al. Analysis of Nigerians with apparently sporadic Par... PLoS One 3: e3421, 2008 (PubMed ID: 18927607) |
|
|
PARK2:
(Glu16)
(Pro37)
(Ala46Thr)
(Pro153Arg)
(Met192Leu)
(Leu261)
(Gly319)
(Arg334His)
|
|
ID: 276 | |
Oliveira SA, Scott WK, Nance MA et al. Association study of Parkin gene polymorphisms wit... Arch Neurol 60: 975-80, 2003 (PubMed ID: 12873854) |
|
|
PARK2:
(Ser167Asn)
(Val380Leu)
(Asp394Asn)
|
|
ID: 295 | |
Oliveri RL, Zappia M, Annesi G et al. The parkin gene is not involved in late-onset Park... Neurology 57: 359-62, 2001 (PubMed ID: 11468333) |
|
|
PARK2:
(Ser167Asn)
(Arg366Trp)
(Asp394Asn)
|
|
ID: 219 | |
Orr-Urtreger A, Shifrin C, Rozovski U et al. The LRRK2 G2019S mutation in Ashkenazi Jews with P... Neurology 69: 1595-602, 2007 (PubMed ID: 17938369) |
|
|
LRRK2:
(Leu2005)
(Tyr2018)
(Gly2019Ser)
|
|
ID: 135 | |
Ozelius LJ, Senthil G, Saunders-Pullman R et al. LRRK2 G2019S as a cause of Parkinson's disease in... N Engl J Med 354: 424-5, 2006 (PubMed ID: 16436782) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 92 | |
Paisán-Ruíz C, Nath P, Washecka N et al. Comprehensive analysis of LRRK2 in publicly availa... Hum Mutat 29: 485-90, 2008 (PubMed ID: 18213618) |
|
|
LRRK2:
(c.-44G>T)
(Leu119Pro)
(Cys228Ser)
(His275)
(Asn289)
(IVS10-4A>G)
(IVS16-14delT)
(Tyr707)
(Met712Val)
(Ala716Val)
(Lys871Glu)
(IVS25-8delT)
(IVS27-9C>T)
(Pro1262Ala)
(Ala1430)
(IVS30+12delT)
(Arg1514Gln)
(Pro1542Ser)
(Met1646Thr)
(Arg1728His)
(Arg1728Leu)
(IVS37-9A>G)
(Met1869Val)
(Leu1870Phe)
(IVS38+7C>T)
(Gly2019Ser)
(Thr2141Met)
(Arg2143His)
(Gly2170)
(Glu2395Lys)
(Gly2432)
(Leu2466His)
|
|
ID: 154 | |
Paisán-Ruíz C, Lang AE, Kawarai T et al. LRRK2 gene in Parkinson disease: mutation analysis... Neurology 65: 696-700, 2005 (PubMed ID: 16157901) |
|
|
LRRK2:
(Leu953)
(Ile1371Val)
(Arg1398His)
(Gly1624)
(Gly2019Ser)
(Met2397Thr)
|
|
ID: 57 | |
Paisán-Ruíz C, Jain S, Evans EW et al. Cloning of the gene containing mutations that caus... Neuron 44: 595-600, 2004 (PubMed ID: 15541308) |
|
|
LRRK2:
(Arg1441Gly)
(Met1646Thr)
(Tyr1699Cys)
|
|
ID: 35 | |
Pals P, Lincoln S, Manning J et al. alpha-Synuclein promoter confers susceptibility to... Ann Neurol 56: 591-5, 2004 (PubMed ID: 15455394) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 437 | |
Pankratz N, Kissell DK, Pauciulo MW et al. Parkin dosage mutations have greater pathogenicity... Neurology 73: 279-86, 2009 (PubMed ID: 19636047) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex2-4trip (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex5-8dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Arg33Gln)
(Gln34fs)
(Asn52fs)
(Glu79Stop)
(Ala82Glu)
(Thr83Ala)
(Pro113fs / ex3 Δ40bp)
(Thr173Met)
(IVS4-9T>A)
(Met192Val)
(Lys211Asn)
(Thr240Met)
(Arg256Cys)
(Arg275Trp)
(Glu310Asp)
(IVS9+1delG)
(IVS9+5G>T)
(Gly430Asp)
(Pro437Leu)
|
|
ID: 412 | |
Pankratz N, Pauciulo MW, Elsaesser VE et al. Mutations in LRRK2 other than G2019S are rare in a... Mov Disord 21: 2257-60, 2006 (PubMed ID: 17078063) |
|
|
LRRK2:
(Arg1441Cys)
|
|
ID: 77 | |
Pankratz N, Pauciulo MW, Elsaesser VE et al. Mutations in DJ-1 are rare in familial Parkinson d... Neurosci Lett 408: 209-13, 2006 (PubMed ID: 16997464) |
|
|
PARK7:
(Arg98Gln)
(Thr160)
|
|
ID: 376 | |
Papadimitriou A, Veletza V, Hadjigeorgiou GM et al. Mutated alpha-synuclein gene in two Greek kindreds... Neurology 52: 651-4, 1999 (PubMed ID: 10025809) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 2 | |
Papapetropoulos S, Singer C, Ross OA et al. Clinical heterogeneity of the LRRK2 G2019S mutatio... Arch Neurol 63: 1242-6, 2006 (PubMed ID: 16966501) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 93 | |
Patra B, Parsian AJ, Racette BA et al. LRRK2 gene G2019S mutation and SNPs [haplotypes] i... Parkinsonism Relat Disord 15: 175-80, 2009 (PubMed ID: 18752982) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 186 | |
Pchelina SN, Yakimovskii AF, Emelyanov AK et al. Screening for LRRK2 mutations in patients with Par... Eur J Neurol 15: 692-6, 2008 (PubMed ID: 18435766) |
|
|
LRRK2:
(Arg1441Cys)
(Val1613Ala)
(Gly2019Ser)
|
|
ID: 155 | |
Pchelina SN, Yakimovskii AF, Ivanova ON et al. G2019S LRRK2 mutation in familial and sporadic Par... Mov Disord 21: 2234-6, 2006 (PubMed ID: 2234-6) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 78 | |
Pellecchia MT, Varrone A, Annesi G et al. Parkinsonism and essential tremor in a family with... Mov Disord 22: 559-63, 2007 (PubMed ID: 17149727) |
|
|
PARK2:
(Arg42Pro)
|
|
ID: 268 | |
Peng R, Gou Y, Yuan Q et al. Mutation screening and association analysis of the... Eur Neurol 49: 85-9, 2003 (PubMed ID: 12584415) |
|
|
PARK2:
(Ser167Asn)
|
|
ID: 242 | |
Perez-Pastene C, Cobb SA, Díaz-Grez F et al. Lrrk2 mutations in South America: A study of Chile... Neurosci Lett 422: 193-7, 2007 (PubMed ID: 17614198) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 122 | |
Periquet M, Latouche M, Lohmann E et al. Parkin mutations are frequent in patients with iso... Brain 126: 1271-8, 2003 (PubMed ID: 12764050) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3dup (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-4dup (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex10del (breakpoints not mapped))
(Thr240Met)
(Arg256Cys)
(Arg275Trp)
(Ala398Thr)
|
|
ID: 243 | |
Pigullo S, De Luca A, Barone P et al. Mutational analysis of parkin gene by denaturing h... Parkinsonism Relat Disord 10: 357-62, 2004 (PubMed ID: 15261877) |
|
|
PARK2:
(His215Gln)
(His279)
(IVS8-3C>T)
|
|
ID: 391 | |
Pimentel MM, Moura KC, Abdalla CB et al. A study of LRRK2 mutations and Parkinson's disease... Neurosci Lett 433: 17-21, 2008 (PubMed ID: 18201824) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 156 | |
Pineda-Trujillo N, Carvajal-Carmona LG, Buriticá O et al. A novel Cys212Tyr founder mutation in parkin and a... Neurosci Lett 298: 87-90, 2001 (PubMed ID: 11163284) |
|
|
PARK2:
(Trp74fs)
(Cys212Tyr)
|
|
ID: 220 | |
Pirkevi C, Lesage S, Condroyer C et al. A LRRK2 G2019S mutation carrier from Turkey shares... Neurogenetics 10: 271-3, 2009 (PubMed ID: 19172321) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 187 | |
Polymeropoulos MH, Lavedan C, Leroy E et al. Mutation in the alpha-synuclein gene identified in... Science 276: 2045-7, 1997 (PubMed ID: 9197268) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 1 | |
Poorkaj P, Moses L, Montimurro JS et al. Parkin mutation dosage and the phenomenon of antic... BMC Neurol 5: , 2005 (PubMed ID: 15725358) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(Pro113fs / ex3 Δ40bp)
|
|
ID: 389 | |
Poorkaj P, Nutt JG, James D et al. parkin mutation analysis in clinic patients with e... Am J Med Genet A 129A: 44-50, 2004 (PubMed ID: 15266615) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex9dup (breakpoints not mapped))
(Pro113fs / ex3 Δ40bp)
(Arg402Cys)
(Pro437Leu)
|
|
ID: 250 | |
Pramstaller PP, Künig G, Leenders K et al. Parkin mutations in a patient with hemiparkinsonis... Neurology 58: 808-10, 2002 (PubMed ID: 11889248) |
|
|
PARK2:
(ex7dup (breakpoints not mapped))
(Arg275Trp)
|
|
ID: 233 | |
Prestel J, Gempel K, Hauser TK et al. Clinical and molecular characterisation of a Parki... J Neurol 255: 643-8, 2008 (PubMed ID: 18286320) |
|
|
PINK1:
(Gln126Pro)
|
|
ID: 347 | |
Punia S, Behari M, Govindappa ST et al. Absence/rarity of commonly reported LRRK2 mutation... Neurosci Lett 409: 83-8, 2006 (PubMed ID: 17052850) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 79 | |
Puschmann A, Ross OA, Vilariño-Güell C et al. A Swedish family with de novo alpha-synuclein A53T... Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19632874) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 379 | |
Puschmann A, Wszolek ZK, Farrer M et al. Alpha-synuclein multiplications with parkinsonism,... Parkinsonism Relat Disord 15: 390-2, 2009 (PubMed ID: 18824390) |
|
|
SNCA:
(tripSNCA [F-I])
(tripSNCA [F-I])
(dupSNCA [Fu-J])
(dupSNCA [Fu-J])
|
|
ID: 394 | |
Rajput A, Vilariño-Güell C, Rajput ML et al. Alpha-synuclein polymorphisms are associated with... Mov Disord 24: 2411-4, 2009 (PubMed ID: 19890971) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 436 | |
Rajput A, Dickson DW, Robinson CA et al. Parkinsonism, Lrrk2 G2019S, and tau neuropathology. Neurology 67: 1506-8, 2006 (PubMed ID: 17060589) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 97 | |
Rawal N, Periquet M, Lohmann E et al. New parkin mutations and atypical phenotypes in fa... Neurology 60: 1378-81, 2003 (PubMed ID: 12707451) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-7del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(Met1Leu)
(Asn52fs)
(Arg275Trp)
(IVS7-1G>C)
(Asn428fs)
(Pro437Leu)
(Trp445Stop)
|
|
ID: 244 | |
Rizzo G, Marconi S, Capellari S et al. Benign tremulous parkinsonism in a patient with da... Mov Disord Epub: , 2009 (PubMed ID: 19373934) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 194 | |
Rogaeva E, Johnson J, Lang AE et al. Analysis of the PINK1 gene in a large cohort of ca... Arch Neurol 61: 1898-904, 2004 (PubMed ID: 15596610) |
|
|
PINK1:
(Glu231Gly)
(Asn235Ile)
(Thr236)
(Glu240Lys)
(Arg263Gly)
(Pro296)
(Leu316)
(Met318Leu)
(Ala339Thr)
(Leu347Pro)
(Asp362His)
(Asp391)
(Pro425Ser)
(Glu476Lys)
(Leu489Pro)
(Ser576)
(c.*37T>A)
(c.*40G>A)
|
|
ID: 322 | |
Rohé CF, Montagna P, Breedveld G et al. Homozygous PINK1 C-terminus mutation causing early... Ann Neurol 56: 427-31, 2004 (PubMed ID: 15349871) |
|
|
PINK1:
(Asn521Thr)
(Asp525fs)
|
|
ID: 323 | |
Romito LM, Contarino MF, Ghezzi D et al. High frequency stimulation of the subthalamic nucl... J Neurol 252: 208-11, 2005 (PubMed ID: 15729528) |
|
|
PARK2:
(ex1dup (breakpoints not mapped))
(Gln34fs)
(Ser145Asn)
(Asp243Asn)
(Arg334Cys)
|
|
ID: 303 | |
Ross OA, Wu YR, Lee MC et al. Analysis of Lrrk2 R1628P as a risk factor for Park... Ann Neurol 64: 88-92, 2008 (PubMed ID: 18412265) |
|
|
LRRK2:
(Arg1628Pro)
|
|
ID: 163 | |
Ross OA, Gosal D, Stone JT et al. Familial genes in sporadic disease: common variant... Mech Ageing Dev 128: 378-82, 2007 (PubMed ID: 17531291) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 434 | |
Ross OA, Toft M, Whittle AJ et al. Lrrk2 and Lewy body disease. Ann Neurol 59: 388-93, 2006 (PubMed ID: 16437559) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 100 | |
Samaranch L, Lorenzo-Betancor O, Arbelo JM et al. PINK1-linked parkinsonism is associated with Lewy... Brain 133: 1128-42, 2010 (PubMed ID: 20356854) |
|
|
PINK1:
(ex7del)
(IVS7+1G>A)
|
|
ID: 443 | |
Sammler EM, Swingler RJ, Stuart A et al. Dopamine dysregulation syndrome in a patient with... Mov Disord 24: 2442-3, 2009 (PubMed ID: 19891003) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(Pro113fs / ex3 Δ40bp)
|
|
ID: 413 | |
Santos-Rebouças CB, Abdalla CB, Baldi FJ et al. Co-occurrence of sporadic parkinsonism and late-on... Genet Test 12: 471-3, 2008 (PubMed ID: 19072560) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 168 | |
Sasaki S, Shirata A, Yamane K et al. Parkin-positive autosomal recessive juvenile Parki... Neurology 63: 678-82, 2004 (PubMed ID: 15326242) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
|
|
ID: 304 | |
Satoh J et al. Association of codon 167 Ser/Asn heterozygosity in... Neuroreport 10: 2735-9, 1999 (PubMed ID: 10511432) |
|
|
PARK2:
(Ser167Asn)
|
|
ID: 292 | |
Saunders-Pullman R, Lipton RB, Senthil G et al. Increased frequency of the LRRK2 G2019S mutation i... Neurosci Lett 402: 92-6, 2006 (PubMed ID: 16632201) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 94 | |
Savettieri G, Annesi G, Civitelli D et al. Identification of the novel D297fsX318 PINK1 mutat... Parkinsonism Relat Disord 14: 509-12, 2008 (PubMed ID: 18329316) |
|
|
PINK1:
(Asp297fs)
|
|
ID: 348 | |
Scarciolla O, Brancati F, Valente EM et al. Multiplex ligation-dependent probe amplification a... Mov Disord 22: 2274-8, 2007 (PubMed ID: 17914726) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
|
|
ID: 269 | |
Scherfler C, Khan NL, Pavese N et al. Striatal and cortical pre- and postsynaptic dopami... Brain 127: 1332-42, 2004 (PubMed ID: 15090472) |
|
|
PARK2:
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(Gln34fs)
(Pro113fs / ex3 Δ40bp)
(IVS5+2T>A)
(Cys268Stop)
(Arg275Trp)
(Asp280Asn)
(Arg334Cys)
(Asp394Asn)
(Gly430Asp)
|
|
ID: 287 | |
Schlitter AM, Woitalla D, Mueller T et al. The LRRK2 gene in Parkinson's disease: mutation sc... J Neurol Neurosurg Psychiatry 77: 891-2, 2006 (PubMed ID: 16788020) |
|
|
LRRK2:
(Ala1151Thr)
(Gly2019Ser)
|
|
ID: 80 | |
Schlitter AM, Kurz M, Larsen JP et al. Parkin gene variations in late-onset Parkinson's d... Acta Neurol Scand 113: 9-13, 2006 (PubMed ID: 16367892) |
|
|
PARK2:
(Thr240Met)
(Arg256Cys)
(Arg402Cys)
|
|
ID: 266 | |
Schlitter AM, Kurz M, Larsen JP et al. Exclusion of PINK1 as candidate gene for the late-... J Negat Results Biomed 4: , 2005 (PubMed ID: 16354302) |
|
|
PINK1:
(Leu63)
(Gln115Leu)
(IVS4-5G>A)
(Asn521Thr)
(c.*37T>A)
|
|
ID: 325 | |
Scholz S, Mandel RJ, Fernandez HH et al. LRRK2 mutations in a clinic-based cohort of Parkin... Eur J Neurol 13: 1298-301, 2006 (PubMed ID: 17116211) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 123 | |
Scott WK, Yamaoka LH, Stajich JM et al. The alpha-synuclein gene is not a major risk facto... Neurogenetics 2: 191-2, 1999 (PubMed ID: 10541595) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 4 | |
Shadrina MI, Semenova EV, Slominsky PA et al. Effective quantitative real-time polymerase chain... BMC Med Genet 8: , 2007 (PubMed ID: 17324265) |
|
|
PARK2:
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex3-7del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
|
|
ID: 270 | |
Shin CW, Kim HJ, Park SS et al. Two Parkinson's disease patients with alpha-synucl... Mov Disord 25: 957-9, 2010 (PubMed ID: 20222138) |
|
|
SNCA:
(dupSNCA [S1])
(dupSNCA [S2])
|
|
ID: 439 | |
Shojaee S, Fazlali Z, Ghazavi F et al. Identification of four novel potentially Parkinson... Neurosci Lett 467: 53-7, 2009 (PubMed ID: 19800393) |
|
|
LRRK2:
(Leu929)
(Arg1725Gln)
(Gln1823Lys)
(Asp2175His)
(Leu2439Ile)
|
|
ID: 421 | |
Shojaee S, Sina F, Farboodi N et al. A clinic-based screening of mutations in exons 31,... Mov Disord 24: 1023-7, 2009 (PubMed ID: 19353692) |
|
|
LRRK2:
(Arg1441Cys)
(IVS31+3A>G)
(IVS47-9delT)
(Gly2385)
|
|
ID: 195 | |
Shyu WC, Lin SZ, Chiang MF et al. Early-onset Parkinson's disease in a Chinese popul... Parkinsonism Relat Disord 11: 173-80, 2005 (PubMed ID: 15823482) |
|
|
PARK2:
(ex1del (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex10-12del (breakpoints not mapped))
(Cys212Gly)
(Arg256Cys)
(Val258Met)
(Gln311His)
(Gly430Asp)
(Cys441Arg)
|
|
ID: 258 | |
Simon-Sanchez J, Scholz S, Matarin Mdel M et al. Genomewide SNP assay reveals mutations underlying... Hum Mutat 29: 315-22, 2008 (PubMed ID: 17994548) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
|
|
ID: 277 | |
Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV et al. Parkinson's disease due to the R1441G mutation in... Mov Disord 21: 1954-9, 2006 (PubMed ID: 16991141) |
|
|
LRRK2:
(Arg1441Gly)
|
|
ID: 99 | |
Singleton AB, Farrer M, Johnson J et al. alpha-Synuclein locus triplication causes Parkinso... Science 302: 841, 2003 (PubMed ID: 14593171) |
|
|
SNCA:
(tripSNCA [S])
|
|
ID: 11 | |
Sinha R, Racette B, Perlmutter JS et al. Prevalence of parkin gene mutations and variations... Parkinsonism Relat Disord 11: 341-7, 2005 (PubMed ID: 16019250) |
|
|
PARK2:
(Ser167Asn)
(Arg275Trp)
(Arg366Trp)
(Asp394Asn)
|
|
ID: 309 | |
Sironi F, Trotta L, Antonini A et al. alpha-Synuclein multiplication analysis in Italian... Parkinsonism Relat Disord Epub: , 2009 (PubMed ID: 19833540) |
|
|
SNCA:
(dupSNCA [S])
|
|
ID: 393 | |
Sironi F, Primignani P, Zini M et al. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 14: 326-33, 2008 (PubMed ID: 18519021) |
|
|
PARK2:
(ex2dup (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex6-7del (breakpoints not mapped))
(Arg42Pro)
(Ala82Glu)
(Met192Leu)
(Cys212fs)
(Ala230Thr)
(Cys238Trp)
(Thr240Met)
(Cys253Tyr)
(Arg275Trp)
(Leu307)
(Arg402Cys)
(Glu409Stop)
(*94A>G)
(*94_95delinsGCGC)
|
|
ID: 278 | |
Skipper L, Shen H, Chua E et al. Analysis of LRRK2 functional domains in nondominan... Neurology 65: 1319-21, 2005 (PubMed ID: 16247070) |
|
|
LRRK2:
(Arg1067Gln)
(IVS33+6T>A)
|
|
ID: 58 | |
Spanaki C, Latsoudis H, Plaitakis A. LRRK2 mutations on Crete: R1441H associated with P... Neurology 67: 1518-9, 2006 (PubMed ID: 17060595) |
|
|
LRRK2:
(Arg1441His)
(Gly2019Ser)
|
|
ID: 81 | |
Spira PJ, Sharpe DM, Halliday G et al. Clinical and pathological features of a Parkinsoni... Ann Neurol 49: 313-9, 2001 (PubMed ID: 11261505) |
|
|
SNCA:
(Ala53Thr)
|
|
ID: 5 | |
Squillaro T, Cambi F, Ciacci G et al. Frequency of the LRRK2 G2019S mutation in Italian... J Hum Genet 52: 201-4, 2007 (PubMed ID: 17235449) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 136 | |
Sun M, Latourelle JC, Wooten GF et al. Influence of heterozygosity for parkin mutation on... Arch Neurol 63: 826-32, 2006 (PubMed ID: 16769863) |
|
|
PARK2:
(ex1dup (breakpoints not mapped))
(ex2del (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex6-8dup (breakpoints not mapped))
(ex7-8del (breakpoints not mapped))
(ex9dup (breakpoints not mapped))
(ex12dup (breakpoints not mapped))
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Cys253Tyr)
(Arg275Trp)
(Arg402Cys)
(Gly430Asp)
(Pro437Leu)
|
|
ID: 296 | |
Tan EK, Peng R, Teo YY et al. Multiple LRRK2 variants modulate risk of Parkinson... Hum Mutat 31: 561-8, 2010 (PubMed ID: 20186690) |
|
|
LRRK2:
(Leu153)
(Ala419Val)
(Asn551Lys)
(Ile723Val)
(Pro755Leu)
(Leu953)
(Arg1398His)
(Lys1423)
(Arg1628Pro)
(Lys1637)
(Ser1647Thr)
(Gly1819)
(Ile2012Thr)
(Glu2108)
(Gly2385Arg)
(Gly2385)
(Met2397Thr)
|
|
ID: 430 | |
Tan EK, Lee J, Chen CP et al. Case control analysis of LRRK2 Gly2385Arg in Alzhe... Neurobiol Aging 30: 501-2, 2009 (PubMed ID: 17720280) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 191 | |
Tan EK, Peng R, Wu YR et al. LRRK2 G2385R modulates age at onset in Parkinson's... Am J Med Genet B Neuropsychiatr Genet Epub: , 2009 (PubMed ID: 19152345) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 181 | |
Tan EK, Lee J, Lim HQ et al. Essential tremor and the common LRRK2 G2385R varia... Parkinsonism Relat Disord 14: 569-71, 2008 (PubMed ID: 18316234) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 165 | |
Tan EK, Tang M, Tan LC et al. Lrrk2 R1628P in non-Chinese Asian races. Ann Neurol 64: 472-3, 2008 (PubMed ID: 18688798) |
|
|
LRRK2:
(Arg1628Pro)
|
|
ID: 157 | |
Tan EK, Tan LC, Lim HQ et al. LRRK2 R1628P increases risk of Parkinson's disease... Hum Genet 124: 287-8, 2008 (PubMed ID: 18781329) |
|
|
LRRK2:
(Arg1628Pro)
|
|
ID: 164 | |
Tan EK, Lim HQ, Yuen Y et al. Pathogenicity of LRRK2 P755L variant in Parkinson'... Mov Disord 23: 734-6, 2008 (PubMed ID: 18265005) |
|
|
LRRK2:
(Pro755Leu)
|
|
ID: 158 | |
Tan EK, Zhao Y, Tan L et al. Analysis of LRRK2 Gly2385Arg genetic variant in no... Mov Disord 22: 1816-8, 2007 (PubMed ID: 17659642) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 131 | |
Tan EK, Fook-Chong S, Yi Z. Comparing LRRK2 Gly2385Arg carriers with noncarrie... Mov Disord 22: 749-50, 2007 (PubMed ID: 17290460) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 130 | |
Tan EK, Zhao Y, Skipper L et al. The LRRK2 Gly2385Arg variant is associated with Pa... Hum Genet 120: 857-63, 2007 (PubMed ID: 17019612) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 196 | |
Tan EK, Skipper L, Chua E et al. Analysis of 14 LRRK2 mutations in Parkinson's plus... Mov Disord 21: 997-1001, 2006 (PubMed ID: 16602113) |
|
|
LRRK2:
(Arg1441Cys)
|
|
ID: 82 | |
Tan EK, Yew K, Chua E et al. PINK1 mutations in sporadic early-onset Parkinson'... Mov Disord 21: 789-93, 2006 (PubMed ID: 16482571) |
|
|
PINK1:
(Arg246Stop)
(Tyr258Stop)
(Ala280Thr)
(Ala340Thr)
(Asn521Thr)
|
|
ID: 337 | |
Tan EK, Shen H, Tan JM et al. Differential expression of splice variant and wild... Neurogenetics 6: 179-84, 2005 (PubMed ID: 16086186) |
|
|
PARK2:
(ex4del (breakpoints not mapped))
|
|
ID: 310 | |
Tan EK, Yew K, Chua E et al. Analysis of PINK1 in Asian patients with familial... Clin Genet 68: 468-70, 2005 (PubMed ID: 16207217) |
|
|
PINK1:
(Leu268Val)
|
|
ID: 326 | |
Tang B, Xiong H, Sun P et al. Association of PINK1 and DJ-1 confers digenic inhe... Hum Mol Genet 15: 1816-25, 2006 (PubMed ID: 16632486) |
|
|
PARK7:
(Ala39Ser)
|
|
ID: 338 | |
Tarantino P, Civitelli D, Annesi F et al. Compound heterozygosity in DJ-1 gene non-coding po... Parkinsonism Relat Disord 15: 324-6, 2009 (PubMed ID: 18722801) |
|
|
PARK7:
(IVS4+8_9insA)
|
|
ID: 377 | |
Tassin J, Dürr A, Bonnet AM et al. Levodopa-responsive dystonia. GTP cyclohydrolase I... Brain 123: 1112-21, 2000 (PubMed ID: 10825351) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
|
|
ID: 228 | |
Terreni L, Calabrese E, Calella AM et al. New mutation (R42P) of the parkin gene in the ubiq... Neurology 56: 463-6, 2001 (PubMed ID: 11222788) |
|
|
PARK2:
(Arg42Pro)
|
|
ID: 221 | |
Toft M, Haugarvoll K, Ross OA et al. LRRK2 and Parkinson's disease in Norway. Acta Neurol Scand Suppl 187: 72-5, 2007 (PubMed ID: 17419834) |
|
|
LRRK2:
(Arg793Met)
|
|
ID: 124 | |
Toft M, Mata IF, Ross OA et al. Pathogenicity of the Lrrk2 R1514Q substitution in... Mov Disord 22: 389-92, 2007 (PubMed ID: 17216639) |
|
|
LRRK2:
(Arg1514Gln)
|
|
ID: 125 | |
Toft M, Myhre R, Pielsticker L et al. PINK1 mutation heterozygosity and the risk of Park... J Neurol Neurosurg Psychiatry 78: 82-4, 2007 (PubMed ID: 17172567) |
|
|
PINK1:
(Val170Gly)
(Arg279)
(Gly411Ser)
(Pro498Leu)
(Stop582Leu)
|
|
ID: 356 | |
Tomiyama H, Mizuta I, Li Y et al. LRRK2 P755L variant in sporadic Parkinson's diseas... J Hum Genet 53: 1012-5, 2008 (PubMed ID: 18923807) |
|
|
LRRK2:
(Pro755Leu)
|
|
ID: 159 | |
Tomiyama H, Li Y, Funayama M et al. Clinicogenetic study of mutations in LRRK2 exon 41... Mov Disord 21: 1102-8, 2006 (PubMed ID: 16622854) |
|
|
LRRK2:
(Ile2012Thr)
(Gly2019Ser)
(Ile2020Thr)
|
|
ID: 95 | |
Ujike H, Yamamoto M, Kanzaki A et al. Prevalence of homozygous deletions of the parkin g... Mov Disord 16: 111-3, 2001 (PubMed ID: 11215568) |
|
|
PARK2:
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
|
|
ID: 222 | |
Valente EM, Salvi S, Ialongo T et al. PINK1 mutations are associated with sporadic early... Ann Neurol 56: 336-41, 2004 (PubMed ID: 15349860) |
|
|
PINK1:
(Leu63)
(Arg68Pro)
(Cys92Phe)
(IVS1-7A>G)
(Ala168Pro)
(Pro296Leu)
(IVS4-5G>A)
(Gln355)
(Ser365)
(Ile442Thr)
(Arg464His)
(Glu476Lys)
(IVS7+14C>G)
(Asp525Asn)
|
|
ID: 319 | |
Valente EM, Abou-Sleiman PM, Caputo V et al. Hereditary early-onset Parkinson's disease caused... Science 304: 1158-60, 2004 (PubMed ID: 15087508) |
|
|
PINK1:
(IVS1-7A>G)
(Gly309Asp)
(Arg312)
(IVS4-5G>A)
(Ala340Thr)
(Trp437Stop)
(Asn521Thr)
|
|
ID: 316 | |
van de Warrenburg BP, Lammens M, Lücking CB et al. Clinical and pathologic abnormalities in a family... Neurology 56: 555-7, 2001 (PubMed ID: 11222808) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(Lys211Asn)
|
|
ID: 227 | |
Varrone A, Pellecchia MT, Amboni M et al. Imaging of dopaminergic dysfunction with [123I]FP-... Neurology 63: 2097-103, 2004 (PubMed ID: 15596756) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(c.-6G>C)
(Ala82Glu)
(Arg104Trp)
(Ser145Asn)
(Arg402Cys)
|
|
ID: 305 | |
Wang F, Feng X, Ma J et al. A common A340T variant in PINK1 gene associated wi... Neurosci Lett 410: 121-5, 2006 (PubMed ID: 17084972) |
|
|
PINK1:
(Ala340Thr)
|
|
ID: 339 | |
Wang L, Guo JF, Nie LL et al. A novel LRRK2 mutation in a mainland Chinese patie... Neurosci Lett 468: 198-201, 2010 (PubMed ID: 19879329) |
|
|
LRRK2:
(Lys616Arg)
|
|
ID: 423 | |
Wang M, Hattori N, Matsumine H et al. Polymorphism in the parkin gene in sporadic Parkin... Ann Neurol 45: 655-8, 1999 (PubMed ID: 10319889) |
|
|
PARK2:
(Ser167Asn)
(Arg366Trp)
(Val380Leu)
|
|
ID: 210 | |
Wang T, Liang ZH, Sun SG et al. Systematic examination of DNA variants in the park... Chin Med J 117: 1567-9, 2004 (PubMed ID: 15498385) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(Gly284Arg)
|
|
ID: 414 | |
Wang Y, Clark LN, Louis ED et al. Risk of Parkinson disease in carriers of parkin mu... Arch Neurol 65: 467-74, 2008 (PubMed ID: 18413468) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(c.-21G>T)
(Asp18Asn)
(Arg42Pro)
(Pro113fs / ex3 Δ40bp)
(Pro153Arg)
(Met192Leu)
(Cys253Tyr)
(Arg275Trp)
(Asp280Asn)
(Ile298Leu)
(Gly319)
(Arg366Gln)
|
|
ID: 286 | |
Weng YH, Chou YH, Wu WS et al. PINK1 mutation in Taiwanese early-onset parkinsoni... J Neurol 254: 1347-55, 2007 (PubMed ID: 17960343) |
|
|
PINK1:
(Gly193Arg)
(Glu239Stop)
(Leu268)
(Tyr404)
(Tyr454)
(Arg492Stop)
|
|
ID: 343 | |
Wickremaratchi MM, Majounie E, Morris HR et al. Parkin-related disease clinically diagnosed as a p... Mov Disord 24: 138-40, 2009 (PubMed ID: 18942080) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
|
|
ID: 282 | |
Wiley J, Lynch T, Lincoln S et al. Parkinson's disease in Ireland: clinical presentat... Mov Disord 19: 677-81, 2004 (PubMed ID: 15197707) |
|
|
PARK2:
(ex2-3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(Pro113fs / ex3 Δ40bp)
(Arg275Trp)
|
|
ID: 251 | |
Williams-Gray CH, Goris A, Foltynie T et al. Prevalence of the LRRK2 G2019S mutation in a UK co... J Neurol Neurosurg Psychiatry 77: 665-7, 2006 (PubMed ID: 16614029) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 85 | |
Winkler S, Hagenah J, Lincoln S et al. alpha-Synuclein and Parkinson disease susceptibili... Neurology 69: 1745-50, 2007 (PubMed ID: 17872362) |
|
|
SNCA:
(c.*893C>T)
|
|
ID: 435 | |
Wu RM, Bounds R, Lincoln S et al. Parkin mutations and early-onset parkinsonism in a... Arch Neurol 62: 82-7, 2005 (PubMed ID: 15642853) |
|
|
PARK2:
(ex2del (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(Gly284Arg)
(Arg396Gly)
|
|
ID: 259 | |
Wu RM, Shan DE, Sun CM et al. Clinical, 18F-dopa PET, and genetic analysis of an... Mov Disord 17: 670-5, 2002 (PubMed ID: 12210855) |
|
|
PARK2:
(ex3del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
|
|
ID: 306 | |
Wu YR, Wu CH, Chao CY et al. Genetic analysis of Parkin in early onset Parkinso... Am J Med Genet B Neuropsychiatr Genet. Epub: , 2009 (PubMed ID: 19475582) |
|
|
LRRK2:
(Gly2385Arg)
|
|
ID: 378 | |
Xiromerisiou G, Hadjigeorgiou GM, Gourbali V et al. Screening for SNCA and LRRK2 mutations in Greek sp... Eur J Neurol 14: 7-11, 2007 (PubMed ID: 17222106) |
|
|
LRRK2:
(Ala211Val)
(Lys544Glu)
(Gly2019Ser)
|
|
ID: 126 | |
Yu L, Hu F, Zou X et al. LRRK2 R1628P contributes to Parkinson's disease su... Brain Res 1296: 113-6, 2009 (PubMed ID: 19699188) |
|
|
LRRK2:
(Arg1628Pro)
|
|
ID: 418 | |
Zabetian CP, Yamamoto M, Lopez AN et al. LRRK2 mutations and risk variants in Japanese pati... Mov Disord 24: 1034-41, 2009 (PubMed ID: 19343804) |
|
|
LRRK2:
(Arg1067Gln)
(Pro1446Leu)
(Val1450Ile)
(Gly2019Ser)
(Gly2385Arg)
|
|
ID: 182 | |
Zabetian CP, Hutter CM, Yearout D et al. LRRK2 G2019S in families with Parkinson disease wh... Am J Hum Genet 79: 752-8, 2006 (PubMed ID: 16960813) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 101 | |
Zabetian CP, Morino H, Ujike H et al. Identification and haplotype analysis of LRRK2 G20... Neurology 67: 697-9, 2006 (PubMed ID: 16728648) |
|
|
LRRK2:
(Gly2019Ser)
|
|
ID: 96 | |
Zabetian CP, Samii A, Mosley AD et al. A clinic-based study of the LRRK2 gene in Parkinso... Neurology 65: 741-4, 2005 (PubMed ID: 16157909) |
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|
LRRK2:
(Arg1441Cys)
(Arg1441His)
(IVS31+3A>G)
(Gly2019Ser)
|
|
ID: 59 | |
Zadikoff C, Rogaeva E, Djarmati A et al. Homozygous and heterozygous PINK1 mutations: consi... Mov Disord 21: 875-9, 2006 (PubMed ID: 16547921) |
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|
PINK1:
(Gly411Ser)
(Gln456Stop)
|
|
ID: 340 | |
Zarranz JJ, Alegre J, Gómez-Esteban JC et al. The new mutation, E46K, of alpha-synuclein causes... Ann Neurol 55: 164-73, 2004 (PubMed ID: 14755719) |
|
|
SNCA:
(Glu46Lys)
|
|
ID: 10 | |
Zhang Z, Burgunder JM, An X et al. LRRK2 R1628P variant is a risk factor of Parkinson... Mov Disord 24: 1902-5, 2009 (PubMed ID: 19672984) |
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|
LRRK2:
(Arg1628Pro)
|
|
ID: 419 | |
Zimprich A, Biskup S, Leitner P et al. Mutations in LRRK2 cause autosomal-dominant parkin... Neuron 44: 601-7, 2004 (PubMed ID: 15541309) |
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|
LRRK2:
(Leu119Pro)
(Arg793Met)
(Leu1114)
(Ile1122Val)
(Arg1441Cys)
(Arg1514Gln)
(Met1646Thr)
(Tyr1699Cys)
(Ile2020Thr)
(Asn2081Asp)
|
|
ID: 37 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
 |
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