Inter-University Attraction Poles Phase VII P7/16 Network: An integrated approach towards understanding the pathogenesis of neurodegeneration





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IAP VII P7/16 Publications

P1. Christine Van Broeckhoven


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2016 →top

Adamczuk K, De Weer AS, Nelissen N, Dupont P, Sunaert S, Bettens K, Sleegers K, Van Broeckhoven C, Van Laere K, Vandenberghe R (2016) Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults. Cereb Cortex 26(1): 358-73 () pdf(private)

Kovacs GG, van der Zee J, Hort J, Kristoferitsch W, Leitha T, Höftberger R, Ströbel T, Van Broeckhoven C, Matej R (2016) Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia. Neuropathology 36(1): 27-38 () pdf(private)

Van Cauwenberghe C, Van Broeckhoven C, Sleegers K (2016) The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med 18(5): 421-30 () pdf(private)

Kleinberger G, Capell A, Brouwers N, Fellerer K, Sleegers K, Cruts M, Van Broeckhoven C, Haass C (2016) Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin. Neurobiol Aging : 220.e17-26 () pdf(private)

Almeida MR, Letra L, Pires P, Santos A, Rebelo O, Guerreiro R, van der Zee J, Van Broeckhoven C, Santana I (2016) Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene. Neurobiol Aging : 191.e1-8 () pdf(private)

Cacace R, Sleegers K, Van Broeckhoven C (2016) Molecular genetics of early-onset Alzheimer disease revisited. Alzheimers Dement : () pdf(private)


2015 →top

Verstraeten A, Theuns J, Van Broeckhoven C (2015) Progress in unraveling the genetic etiology of Parkinson disease in a genomic era. Trends Genet 31(3): 140-9 () pdf(private)


2014 →top

Gelpi E, van der Zee J, Turon Estrada A, Van Broeckhoven C, Sanchez-Valle R (2014) TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy. Neuropathol Appl Neurobiol 40(2): 225-30 () pdf(private)

Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A (2014) Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation. J Neurol Neurosurg Psychiatry 85(6): 684-91 () pdf(private)

van der Zee J, Van Broeckhoven C (2014) Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs. Nat Rev Neurol 10(2): 70-2 () pdf(private)

Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Puschmann A, Tan EK, Crosiers D, Theuns J, Van Broeckhoven C, Wirdefeldt K, Wszolek ZK, Elbaz A, Maraganore DM, (2014) Alpha-synuclein repeat variants and survival in Parkinson's disease. Mov Disord 29(8): 1053-7 () pdf(private)

Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C (2014) A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 51(6): 419-24 () pdf(private)

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P (2014) Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol 13(7): 686-99 () pdf(private)


2013 →top

Chester C, de Carvalho M, Miltenberger G, Pereira S, Dillen L, van der Zee J, van Broeckhoven C, de Mendonça A (2013) Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation. Amyotroph Lateral Scler Frontotemporal Degener 14(1): 70-72 () pdf(private)

Bettens K, Sleegers K, Van Broeckhoven C (2013) Genetic insights in Alzheimer's disease. Lancet Neurol 12(1): 92-104 () pdf(private)

Kleinberger G, Capell A, Haass C, Van Broeckhoven C (2013) Mechanisms of granulin deficiency: lessons from cellular and animal models. Mol Neurobiol 47(1): 337-360 () pdf(private)

Mori K, Lammich S, Mackenzie IR, Forné I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125(3): 413-423 () pdf(private)

Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339(6125): 1335-1338 () pdf(private)

Schmid B, Hruscha A, Hogl S, Banzhaf-Strathmann J, Strecker K, van der Zee J, Teucke M, Eimer S, Hegermann J, Kittelmann M, Kremmer E, Cruts M, Solchenberger B, Hasenkamp L, van Bebber F, Van Broeckhoven C, Edbauer D, Lichtenthaler SF, Haass C (2013) Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth. Proc Natl Acad Sci U S A 110(13): 4986-4991 () pdf(private)

Janssens J, Wils H, Kleinberger G, Joris G, Cuijt I, Ceuterick-de Groote C, Van Broeckhoven C, Kumar-Singh S (2013) Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice. Mol Neurobiol : () pdf(private)

Vanhoutte G, Pereson S, Delgado Y Palacios R, Guns PJ, Asselbergh B, Veraart J, Sijbers J, Verhoye M, Van Broeckhoven C, Van der Linden A (2013) Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease. Magn Reson Med 69(4): 1115-1121 () pdf(private)

Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C (2013) Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci 36(8): 450-459 () pdf(private)

Janssens J, Van Broeckhoven C (2013) Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders. Hum Mol Genet 22(R1): R77-87 () pdf(private)

Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA, (2013) Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord 28(12): 1740-1744 () pdf(private)

Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126(6): 881-893 () pdf(private)

Adamczuk K, De Weer AS, Nelissen N, Chen K, Sleegers K, Bettens K, Van Broeckhoven C, Vandenbulcke M, Thiyyagura P, Dupont P, Van Laere K, Reiman EM, Vandenberghe R (2013) Polymorphism of brain derived neurotrophic factor influences β amyloid load in cognitively intact apolipoprotein E ε4 carriers. Neuroimage Clin : 512-520 () pdf(private)


2012 →top

Van Langenhove T, van der Zee J, Van Broeckhoven C (2012) The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med 44(8): 817-828 () pdf(private)

Cruts M, Theuns J, Van Broeckhoven C (2012) Locus-specific mutation databases for neurodegenerative brain diseases. Hum Mutat 33(9): 1340-1344 () pdf(private)

Meeus B, Theuns J, Van Broeckhoven C (2012) The genetics of dementia with Lewy bodies: what are we missing? Arch Neurol 69(9): 1113-1118 () pdf(private)

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R, (2012) Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 79(7): 659-667 () pdf(private)

Hazrati LN, Van Cauwenberghe C, Brooks PL, Brouwers N, Ghani M, Sato C, Cruts M, Sleegers K, St George-Hyslop P, Van Broeckhoven C, Rogaeva E (2012) Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism. Neurobiol Aging 33(12): 2949.e5-2949.e12 () pdf(private)

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R, (2012) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49(11): 721-726 () pdf(private)