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| Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS PEA Ash, KF Bieniek, TF Gendron, T Caulfield, WL Lin, ... Neuron 77 (4), 639-646, 2013 | 1191 | 2013 |
| Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids R Rademakers, M Baker, AM Nicholson, NJ Rutherford, NC Finch, ... Nature genetics 44 (2), 200-205, 2012 | 522 | 2012 |
| Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics JL Whitwell, SD Weigand, BF Boeve, ML Senjem, JL Gunter, ... Brain 135 (3), 794-806, 2012 | 460 | 2012 |
| A yeast functional screen predicts new candidate ALS disease genes J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ... Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011 | 441 | 2011 |
| Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 BF Boeve, KB Boylan, NR Graff-Radford, M DeJesus-Hernandez, ... Brain 135 (3), 765-783, 2012 | 412 | 2012 |
| Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 ME Murray, M DeJesus-Hernandez, NJ Rutherford, M Baker, R Duara, ... Acta neuropathologica 122, 673-690, 2011 | 349 | 2011 |
| Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study M van Blitterswijk, M DeJesus-Hernandez, E Niemantsverdriet, ... The Lancet Neurology 12 (10), 978-988, 2013 | 327 | 2013 |
| FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations M Neumann, E Bentmann, D Dormann, A Jawaid, M DeJesus-Hernandez, ... Brain 134 (9), 2595-2609, 2011 | 322 | 2011 |
| Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p GYR Hsiung, M DeJesus-Hernandez, HH Feldman, P Sengdy, ... Brain 135 (3), 709-722, 2012 | 267 | 2012 |
| TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers N Finch, MM Carrasquillo, M Baker, NJ Rutherford, G Coppola, ... Neurology 76 (5), 467-474, 2011 | 261 | 2011 |
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| How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? M Van Blitterswijk, M DeJesus-Hernandez, R Rademakers Current opinion in neurology 25 (6), 689-700, 2012 | 212 | 2012 |
| Ataxin-2 repeat-length variation and neurodegeneration OA Ross, NJ Rutherford, M Baker, AI Soto-Ortolaza, MM Carrasquillo, ... Human molecular genetics 20 (16), 3207-3212, 2011 | 201 | 2011 |
| Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p H Stewart, NJ Rutherford, H Briemberg, C Krieger, N Cashman, M Fabros, ... Acta neuropathologica 123, 409-417, 2012 | 185 | 2012 |
| De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis M DeJesus‐Hernandez, J Kocerha, NC Finch, R Crook, M Baker, ... Human mutation 31 (5), E1377-E1389, 2010 | 181 | 2010 |
| The chromosome 9 ALS and FTD locus is probably derived from a single founder K Mok, BJ Traynor, J Schymick, PJ Tienari, H Laaksovirta, T Peuralinna, ... Neurobiology of aging 33 (1), 209. e3-209. e8, 2012 | 173 | 2012 |
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| TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia M Van Blitterswijk, B Mullen, AM Nicholson, KF Bieniek, MG Heckman, ... Acta neuropathologica 127, 397-406, 2014 | 159 | 2014 |
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