| Clinical, neurological, and electrophysiological features of nodding syndrome in Kitgum, Uganda: an observational case series JJ Sejvar, AM Kakooza, JL Foltz, I Makumbi, AD Atai-Omoruto, M Malimbo, ... The Lancet Neurology 12 (2), 166-174, 2013 | 154 | 2013 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 129 | 2021 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 98 | 2018 |
| Leukodystrophies SJ Perlman, S Mar Neurodegenerative Diseases, 154-171, 2012 | 56 | 2012 |
| Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ... JAMA neurology 78 (10), 1236-1248, 2021 | 54 | 2021 |
| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 53 | 2020 |
| Efficacy and safety of vamorolone vs placebo and prednisone among boys with Duchenne muscular dystrophy: a randomized clinical trial M Guglieri, PR Clemens, SJ Perlman, EC Smith, I Horrocks, RS Finkel, ... JAMA neurology 79 (10), 1005-1014, 2022 | 50 | 2022 |
| Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions SJ Perlman, S Kulkarni, L Manwaring, M Shinawi American Journal of Medical Genetics Part A 161 (4), 711-716, 2013 | 39 | 2013 |
| Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup MM Segal, MS Williams, AL Gropman, AR Torres, R Forsyth, AM Connolly, ... Journal of child neurology 29 (4), 487-492, 2014 | 33 | 2014 |
| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids S Ferdinandusse, K McWalter, H Te Brinke, L IJlst, PM Mooijer, ... Genetics in medicine 23 (4), 740-750, 2021 | 30 | 2021 |
| Response to Eculizumab in Escherichia coli O157: H7–Induced Hemolytic Uremic Syndrome With Severe Neurological Manifestations A Saini, AR Emke, MC Silva, SJ Perlman Clinical Pediatrics 54 (4), 387-389, 2015 | 14 | 2015 |
| Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... BioRxiv, 2020.11. 03.365395, 2020 | 13 | 2020 |
| Transfusion in elderly patients with myocardial infarction. S Perlman, D Moskowitz, H Bennett The New England journal of medicine 346 (10), 779-782, 2002 | 10 | 2002 |
| Childhood Graves disease masquerading as myasthenia gravis SJ Perlman, CM Zaidman Journal of child neurology 28 (10), 1309-1311, 2013 | 9 | 2013 |
| Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant) P Gonzalez-Perez, C Smith, WL Sebetka, A Gedlinske, S Perlman, ... Neuromuscular Disorders 30 (3), 213-218, 2020 | 5 | 2020 |
| Vamorolone versus placebo and prednisone in Duchenne muscular dystrophy: results from a 24-week double-blind randomized trial M Guglieri, P Clemens, S Perlman, E Smith, I Horrocks, R Finkel, ... Neuromuscular Disorders 31, 2021 | 4 | 2021 |
| Leukodystrophies Neurodegenerative Diseases, editor, Editor Ed‐itors SJ Perlman, S Mar Springer US, 2012 | 4 | 2012 |
| Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial UJ Dang, JM Damsker, M Guglieri, PR Clemens, SJ Perlman, EC Smith, ... Neurology 102 (5), e208112, 2024 | 2 | 2024 |
| A population‐based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) KM Conway, A Gedlinske, KD Mathews, S Perlman, N Johnson, ... Muscle & nerve 65 (2), 193-202, 2022 | 2 | 2022 |
| Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation JO Johnson, R Chia, DE Miller, R Li, Y Abramzon, R Kumaran, ... | 2 | 2019 |
Shashikant Kulkarni (Shashi)Professor & Vice Chairman, Baylor College of Medicine; CSO & SVP Baylor Geneticsbcm.edu üzerinde doğrulanmış e-posta adresine sahip
