Sabrina W. Yum
Affiliations: | 2002-2007 | Neurology | University of Pennsylvania, Philadelphia, PA, United States |
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Publications
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Kosmanopoulos G, Donohue JK, Hoke M, et al. (2024) TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain : a Journal of Neurology |
Record CJ, Skorupinska M, Laura M, et al. (2023) Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a Journal of Neurology |
Rehbein T, Wu TT, Treidler S, et al. (2023) Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. Brain : a Journal of Neurology |
Fridman V, Sillau S, Bockhorst J, et al. (2022) Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study. Annals of Neurology |
Pagnamenta AT, Kaiyrzhanov R, Zou Y, et al. (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain : a Journal of Neurology |
Pipis M, Feely SME, Polke JM, et al. (2021) Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a Journal of Neurology |
Fridman V, Sillau S, Acsadi G, et al. (2020) A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology |
Tao F, Beecham GW, Rebelo AP, et al. (2019) Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases |
Tao F, Beecham GW, Rebelo AP, et al. (2019) Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology |
Panosyan FB, Laura M, Rossor AM, et al. (2017) Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology |