| 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 | 1195 | 2013 |
| Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS TF Gendron, KF Bieniek, YJ Zhang, K Jansen-West, PEA Ash, T Caulfield, ... Acta neuropathologica 126, 829-844, 2013 | 622 | 2013 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 579 | 2018 |
| Evidence for an oligogenic basis of amyotrophic lateral sclerosis M Van Blitterswijk, MA Van Es, EAM Hennekam, D Dooijes, ... Human molecular genetics 21 (17), 3776-3784, 2012 | 404 | 2012 |
| Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS M Prudencio, VV Belzil, R Batra, CA Ross, TF Gendron, LJ Pregent, ... Nature neuroscience 18 (8), 1175-1182, 2015 | 379 | 2015 |
| Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease C Pottier, KF Bieniek, NC Finch, M van de Vorst, M Baker, R Perkersen, ... Acta neuropathologica 130, 77-92, 2015 | 328 | 2015 |
| 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 | 328 | 2013 |
| Detection of long repeat expansions from PCR-free whole-genome sequence data E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ... Genome research 27 (11), 1895-1903, 2017 | 319 | 2017 |
| NEK1 variants confer susceptibility to amyotrophic lateral sclerosis KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ... Nature genetics 48 (9), 1037-1042, 2016 | 283 | 2016 |
| Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis TF Gendron, J Chew, JN Stankowski, LR Hayes, YJ Zhang, M Prudencio, ... Science translational medicine 9 (383), eaai7866, 2017 | 223 | 2017 |
| CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 220 | 2016 |
| 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 | 213 | 2012 |
| Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis MA Van Es, HJ Schelhaas, PWJ Van Vught, N Ticozzi, PM Andersen, ... Annals of neurology 70 (6), 964-973, 2011 | 212 | 2011 |
| Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2 P Van Damme, JH Veldink, M van Blitterswijk, A Corveleyn, ... Neurology 76 (24), 2066-2072, 2011 | 187 | 2011 |
| 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 |
| VCP mutations in familial and sporadic amyotrophic lateral sclerosis M Koppers, MM van Blitterswijk, L Vlam, PA Rowicka, PWJ van Vught, ... Neurobiology of aging 33 (4), 837. e7-837. e13, 2012 | 149 | 2012 |
| A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories C Akimoto, AE Volk, M van Blitterswijk, M Van den Broeck, CS Leblond, ... Journal of medical genetics 51 (6), 419-424, 2014 | 141 | 2014 |
| Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts NJ Kramer, Y Carlomagno, YJ Zhang, S Almeida, CN Cook, TF Gendron, ... Science 353 (6300), 708-712, 2016 | 133 | 2016 |
| Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 M van Blitterswijk, TF Gendron, MC Baker, M DeJesus-Hernandez, ... Acta neuropathologica 130, 863-876, 2015 | 133 | 2015 |
| Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases W Van Rheenen, M Van Blitterswijk, MHB Huisman, L Vlam, ... Neurology 79 (9), 878-882, 2012 | 132 | 2012 |
Dennis W. DicksonMayo ClinicVerified email at mayo.edu
