Sabrina W. Yum

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2002-2007 Neurology University of Pennsylvania, Philadelphia, PA, United States 
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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
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