The C9orf72 repeat expansion disrupts nucleocytoplasmic transport K Zhang, CJ Donnelly, AR Haeusler, JC Grima, JB Machamer, ... Nature 525 (7567), 56-61, 2015 | 1112 | 2015 |
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia T Zu, Y Liu, M Bañez-Coronel, T Reid, O Pletnikova, J Lewis, TM Miller, ... Proceedings of the National Academy of Sciences 110 (51), E4968-E4977, 2013 | 902 | 2013 |
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study TM Miller, A Pestronk, W David, J Rothstein, E Simpson, SH Appel, ... The Lancet Neurology 12 (5), 435-442, 2013 | 750 | 2013 |
Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis SH Kang, Y Li, M Fukaya, I Lorenzini, DW Cleveland, LW Ostrow, ... Nature neuroscience 16 (5), 571-579, 2013 | 669 | 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 | 666 | 2018 |
The varicella zoster virus vasculopathies: clinical, CSF, imaging, and virologic features MA Nagel, RJ Cohrs, R Mahalingam, MC Wellish, B Forghani, A Schiller, ... Neurology 70 (11), 853-860, 2008 | 607 | 2008 |
Human endogenous retrovirus-K contributes to motor neuron disease W Li, MH Lee, L Henderson, R Tyagi, M Bachani, J Steiner, E Campanac, ... Science Translational Medicine 7 (307), 307ra153-307ra153, 2015 | 502 | 2015 |
PML-IRIS in patients with HIV infection Clinical manifestations and treatment with steroids K Tan, R Roda, L Ostrow, J McArthur, A Nath Neurology 72 (17), 1458-1464, 2009 | 421 | 2009 |
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ... Nature 603 (7899), 131-137, 2022 | 300 | 2022 |
Postmortem cortex samples identify distinct molecular subtypes of als: retrotransposon activation, oxidative stress, and activated glia OH Tam, NV Rozhkov, R Shaw, D Kim, I Hubbard, S Fennessey, N Propp, ... Cell reports 29 (5), 1164-1177. e5, 2019 | 268 | 2019 |
Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS M Benatar, L Zhang, L Wang, V Granit, J Statland, R Barohn, A Swenson, ... Neurology 95 (1), e59-e69, 2020 | 190 | 2020 |
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology, 2019 | 180 | 2019 |
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia M Prudencio, J Humphrey, S Pickles, AL Brown, SE Hill, JM Kachergus, ... The Journal of clinical investigation 130 (11), 2020 | 172 | 2020 |
Mechanosensation and endothelin in astrocytes—hypothetical roles in CNS pathophysiology LW Ostrow, F Sachs Brain research reviews 48 (3), 488-508, 2005 | 118 | 2005 |
Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease OH Tam, LW Ostrow, M Gale Hammell Mobile DNA 10 (1), 1-14, 2019 | 111 | 2019 |
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types S Saez-Atienzar, S Bandres-Ciga, RG Langston, JJ Kim, SW Choi, ... Science advances 7 (3), eabd9036, 2021 | 83 | 2021 |
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron, 2020 | 81 | 2020 |
Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism EG Conlon, D Fagegaltier, P Agius, J Davis-Porada, J Gregory, I Hubbard, ... Elife 7, e37754, 2018 | 78 | 2018 |
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes J Humphrey, S Venkatesh, R Hasan, JT Herb, K de Paiva Lopes, ... Nature Neuroscience 26 (1), 150-162, 2023 | 70 | 2023 |
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis JO Johnson, R Chia, DE Miller, PJ Tienari, H Laaksovirta, M Valori, ... JAMA neurology, 2021 | 68 | 2021 |