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Sabrina W. Yum, M.D.

Sabrina W. Yum, M.D.

faculty photo
Assistant Professor of Neurology at the Children's Hospital of Philadelphia
Department: Neurology

Contact information
Abramson Research Building, Rm502A
3615 Civic Center Boulevard
Philadelphia, pa 19104
Office: 215-590-1719
Fax: 215-590-1771
Education:
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

Description of Clinical Expertise

Pediatric Neurology
Pediatric Neuromuscular diseases
Charcot-Marie-Tooth disease
Nerve conduction study and EMG
Muscle ultrasound

Selected Publications

Kamiya k, Yum SW, Kurebayashi-Kunihiro N, Muraki M, Ogawa K, Karasawa K, Gotoh R, Suginani Y, Yamanaka H, Ito-Kawashima S, Iizuka T, Sakurai T, Noda T, Minowa O, Ikeda K: Connexin26 mutations that cause hereditary deafness lead to macromolecular complex degradation of cochlear gap junction plaques. J Clinical Investigation 124(4): 1598-607, April 2014.

Guo X and Yum SW : Role of mitochondrial reactive oxygen species in cell death caused by connexin 26 mutations associated with keratitis-ichthyosis-deafness syndrome. Neurology 82(10): Supplement P2.281 April 2014.

Brownstein C, Beggs A, Homer N, Merriman B, et al, Yum SW, et al, Kohane I, Margulies D: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results: The CLARITY Challenge. Genome Biology 15(3): R53, March 2014.

Fridman V, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Hall C, Hermann DN, Laurá M, Li J, Lloyd T., Muntoni F, Pareyson D, Ramchandren S, Reilly MM, Scherer S, Shy R, Sorey A, Yum SW, Zuhner S, Shy ME: Distribution of CMT Subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium (INC) Natural History Study between 2009 and 2014. Submitted 2014.

Medne L, Bonnemann CG, Scherer SS, Finkel R, Ortiz-Gonzalez X, Glanzman A, Estilow T, Moll A, Wang Y, Winder Y, Yum SW: The expanding phenotype of TRPV4 related neuropathies with notable intrafamilial variability. Poster presentation, MDA Scientific conference 2014.

Yum SW, Medne L, Estilow T, Glanzman AM, DiVito D, Carsten G. Bonnemann CG: Severe, early onset Charcot–Marie–Tooth disease with rare presentations. Poster presentation. Poster presentation, MDA Scientific conference 2014.

Estilow T, Glanzman A, Flickinger J, Powers KM, Medne L, Tennekoon G, Yum SW : The Wilmington Robotic Exoskeleton (WREX) Improves Upper Extremity Function in Patients with Duchenne Muscular Dystrophy. Poster presentation, MDA Scientific conference 2014.

Harding BN, Kariya S, Monani UR, Chung W, Benton M, Yum SW, and Finkel RS: Spectrum of Neuropathophysiology in Spinal Muscular Atrophy type I. submitted 2014.

Burns J, Menezes MP, Shy R, Sanmaneechai O, Laura M, Muntoni F, Estilow T, Yum S, Finkel RS, Herrmann DN, Eichinger K, Moroni I, Pagliano E, Pareyson D, Reilly MM, Shy ME: Two year natural history of disease progression in childhool Charcot-Marie-Tooth disease. Journal of the peripheral nervous system 18(Supplement 2): S15, June 2013.

Burns J, Menezes MP, Shy R, Sanmaneechai O, Laura M, Muntoni F, Estilow T, Yum S, Finkel RS, Herrmann DN, Eichinger K, Moroni I, Pagliano E, Pareyson D, Reilly MM, Shy ME: Determinants of balance deficit in children with Charcolt-Marie-Tooth disease. Journal of the Peripheral nervous system Presented in The Peripheral Nerve Society meeting 18(Supplement 2): S15, June 2013.

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Last updated: 07/28/2014
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