Sabrina W. Yum, M.D.

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Associate Professor of Clinical Neurology
Attending Neurologist, Children's Hospital of Philadelphia
Clinical Director, CMTA Center of Excellence , Children's Hospital of Philadelphia
co-Director, Brachial Plexus Injury Program, Children's Hospital of Philadelphia
Department: Neurology

Contact information
CTRB Rm10008
3501 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-590-1719
Fax: 215-590-1771
M.D. (Medicine)
Guangzhou Medical College, 1983.
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Description of Research Expertise

Biology and pathogenesis of connexin mutations associated with Charcot-Marie-Tooth disease, hearing loss
The role of neurofilaments in axonal degeneration
Charcot-Marie-Tooth disease
Muscular Dystrophy
Pediatric neuromuscular disorders
clinical trials in pediatric neuromuscular diseases

Description of Clinical Expertise

Pediatric Neurology
Pediatric Neuromuscular diseases
Charcot-Marie-Tooth disease
Brachial plexopathy, Erb's palsy
Nerve conduction study and EMG
Muscle ultrasound
BOTOX injection for patients with movement disorders and spasticity

Selected Publications

Wu TT, Finkel RS, Siskind CE, Feely SM, Burns J, Reilly MM, Muntoni F, Milev E, Estilow OT, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. : Validation of the Parent‐Proxy Version of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Instrument for children aged 0–7 years. Journal of the Peripheral Nervous System 28(3): 382-389, Sept 2023.

Donlevy GA, Cornett KM, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease : Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Neurology 101(7): e717-e727, Aug 2023.

68. Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C. Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network: Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Annals of Neurology 93(3): 563-76, Mar 2023.

Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS. Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN; Inherited Neuropathy Consortium-Rare Diseases Clinical Research Network (INC-RDCRN): Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. Brain 22: awad095, Mar 2023.

71. Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SM, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain 00: 1-14, 2023.

Matesanz SE, Brigatti KW, Young M, Yum SW*, Strauss KA* *co-last authors: Muscle ultrasound in children with SMA treated with early mono- or dual therapy. Platform presentation in the Annual SMA Research and Clinical Care meeting, 2023 2023.

Yum SW. : Deep phenotyping of neuropathy associated with biallelic NMNAT2 variants. Copenhagen. Poster presentation in the International Peripheral Nerve Society Meeting 2023.

Yum SW, Anderson K, Estilow T: Recessive NEFL mutation associated with early onset complicated hereditary spastic paraparesis phenotype. Poster presentation in the International Peripheral Nerve Society Meeting 2023.

Glanzman A, Gardner M, Musey N, Flickinger J, Jones J, Matisanz S, Kitchula E, Sabrina Yum SW, John Brandsema: Sereial casting for contracture in SMA, a comparative analysis with cerebral palsy and Duchenne muscular dystrophy. Poster presentation in the Annual SMA Research and Clinical Care meeting 2023.

Dingwall CB, Strickland A, Yum SW, Yim AK, Zhu J, Wang PL, Yamada Y, Schmidt RE, Sasaki Y, Bloom AJ, DiAntonio A: Macrophage depletion blocks congenital SARM1-dependent neuropathy. The Journal of Clinical Investigation 132(23): e159800, Dec 2022.

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Last updated: 01/11/2024
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