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Sabrina Yum
Sabrina Yum
Children's Hospital of Philadelphia, and the University of Pennsylvania
Verified email at chop.edu
Title
Cited by
Cited by
Year
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
3641990
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
3322015
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
1552005
Diverse trafficking abnormalities of connexin32 mutants causing CMTX
SW Yum, KA Kleopa, S Shumas, SS Scherer
Neurobiology of disease 11 (1), 43-52, 2002
1452002
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
1372009
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
1282011
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
1282007
Cellular mechanisms of connexin32 mutations associated with CNS manifestations
KA Kleopa, SW Yum, SS Scherer
Journal of neuroscience research 68 (5), 522-534, 2002
1262002
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
1202020
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
1202014
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
1142021
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
1092015
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
922016
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
882015
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
741990
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
712014
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
702018
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
652017
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
582018
βIV spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy
CC Wang, XR Ortiz-González, SW Yum, SM Gill, A White, E Kelter, ...
The American Journal of Human Genetics 102 (6), 1158-1168, 2018
562018
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