| Alteration in extracellular amino acids after traumatic spinal cord injury SS Panter, SW Yum, AI Faden Annals of Neurology: Official Journal of the American Neurological …, 1990 | 365 | 1990 |
| CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis V Fridman, B Bundy, MM Reilly, D Pareyson, C Bacon, J Burns, J Day, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (8), 873-878, 2015 | 334 | 2015 |
| Acute disseminated encephalomyelitis in children: discordant neurologic and neuroimaging abnormalities and response to plasmapheresis DS Khurana, JJ Melvin, SV Kothare, I Valencia, HH Hardison, S Yum, ... Pediatrics 116 (2), 431-436, 2005 | 159 | 2005 |
| Diverse trafficking abnormalities of connexin32 mutants causing CMTX SW Yum, KA Kleopa, S Shumas, SS Scherer Neurobiology of disease 11 (1), 43-52, 2002 | 146 | 2002 |
| A novel recessive Nefl mutation causes a severe, early‐onset axonal neuropathy SW Yum, J Zhang, K Mo, J Li, SS Scherer Annals of Neurology: Official Journal of the American Neurological …, 2009 | 136 | 2009 |
| Janus kinase inhibition in the Aicardi–Goutières syndrome A Vanderver, L Adang, F Gavazzi, K McDonald, G Helman, DB Frank, ... New England Journal of Medicine 383 (10), 986-989, 2020 | 133 | 2020 |
| Central nervous system dysfunction in a mouse model of FA2H deficiency KA Potter, MJ Kern, G Fullbright, J Bielawski, SS Scherer, SW Yum, JJ Li, ... Glia 59 (7), 1009-1021, 2011 | 132 | 2011 |
| Human connexin26 and connexin30 form functional heteromeric and heterotypic channels SW Yum, J Zhang, V Valiunas, G Kanaporis, PR Brink, TW White, ... American Journal of Physiology-Cell Physiology 293 (3), C1032-C1048, 2007 | 131 | 2007 |
| Cellular mechanisms of connexin32 mutations associated with CNS manifestations KA Kleopa, SW Yum, SS Scherer Journal of neuroscience research 68 (5), 522-534, 2002 | 126 | 2002 |
| Acute flaccid myelitis: cause, diagnosis, and management OC Murphy, K Messacar, L Benson, R Bove, JL Carpenter, T Crawford, ... The Lancet 397 (10271), 334-346, 2021 | 125 | 2021 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 122 | 2014 |
| Spectrum of neuropathophysiology in spinal muscular atrophy type I BN Harding, S Kariya, UR Monani, WK Chung, M Benton, SW Yum, ... Journal of Neuropathology & Experimental Neurology 74 (1), 15-24, 2015 | 118 | 2015 |
| Phenotypic variability of childhood Charcot-Marie-Tooth disease KMD Cornett, MP Menezes, P Bray, M Halaki, RR Shy, SW Yum, T Estilow, ... JAMA neurology 73 (6), 645-651, 2016 | 91 | 2016 |
| Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene O Sanmaneechai, S Feely, SS Scherer, DN Herrmann, J Burns, F Muntoni, ... Brain 138 (11), 3180-3192, 2015 | 88 | 2015 |
| A multicenter, retrospective medical record review of X‐linked myotubular myopathy: the recensus study AH Beggs, BJ Byrne, S De Chastonay, T Haselkorn, I Hughes, ES James, ... Muscle & nerve 57 (4), 550-560, 2018 | 76 | 2018 |
| Assembly of the cochlear gap junction macromolecular complex requires connexin 26 K Kamiya, SW Yum, N Kurebayashi, M Muraki, K Ogawa, K Karasawa, ... The Journal of clinical investigation 124 (4), 1598-1607, 2014 | 76 | 2014 |
| Comparison of the neuroprotective effects of the N-methyl-D-aspartate antagonist MK-801 and the opiate-receptor antagonist nalmefene in experimental spinal cord ischemia SW Yum, AI Faden Archives of neurology 47 (3), 277-281, 1990 | 74 | 1990 |
| Natural history of Charcot‐Marie‐Tooth disease during childhood KMD Cornett, MP Menezes, RR Shy, I Moroni, E Pagliano, D Pareyson, ... Annals of neurology 82 (3), 353-359, 2017 | 67 | 2017 |
| Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30 SW Yum, J Zhang, SS Scherer Neurobiology of disease 38 (2), 226-236, 2010 | 59 | 2010 |
| STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility IT Zaharieva, A Sarkozy, P Munot, A Manzur, G O'grady, J Rendu, ... Human mutation 39 (12), 1980-1994, 2018 | 58 | 2018 |
