Takip et
Sabrina Yum
Sabrina Yum
Children's Hospital of Philadelphia, and the University of Pennsylvania
chop.edu üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
3332015
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
1292011
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
1212020
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
1182021
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
1102015
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
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
712018
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
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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