Sabrina W. Yum

faculty photo
Assistant 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
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
Muscular Dystrophy
Pediatric neuromuscular disorders

Description of Itmat Expertise

Connexin biopsy,
NFL biopsy,
Pediatric neuromuscular disorders, muscular dystrophies, congenital myopathies, Myasthenia gravis, hereditary and acquired neuropathies, muscle ultrasound, Electrophysiologyy

Selected Publications

Mandarakas MR, Menezes MP, Rose K, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan M, Yiu E, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann D, Acsadi G, Finkel R, Shy M and Burns J, Sanmaneechai O : Development and validation of the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Presented in the 2018 Peripheral Nerve Society meeting June 2018.

Wang CC, Ortiz-Gonzalez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, and Rasband MN: bIV spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy. AJHG 102: 1-11, June 2018.

35. Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S: A multicenter, retrospective medical record review of X‐linked myotubular myopathy. Muscle and Nerve 57(4): 550-560, April 2018.

Finkel R, Vandenborne KHE, Sweeney HL, Finanger E, Tennekoon G, Shieh P, Willcocks, RJ, Forbes SC, Triplett W, Yum SW, Mancini M, Fretzen A, Donovan J: Positive Effects of Edasalonexent, an NF-κB Inhibitor, in 4 to 7-Year Old Patients with Duchenne Muscular Dystrophy in Phase 2 Study with an Open-Label Extension. Neurology and presented in the AAN meeting April 2018.

Kichula EA, Yum SW, Brandsema J: Spinal muscular atrophy: entering the treatment age. Current Pediatrics Reports 6(1): 9-15, Mar 2018.

Finkel R, Vandenborne KHE, Sweeney HL, Finanger E, Tennekoon G, Shieh P, Willcocks, RJ, Forbes SC, Triplett W, Yum SW, Mancini M, Fretzen A, Donovan J: Edasalonexent, an NF-κB Inhibitor, in 4 to 7-Year Old Patients with Duchenne Muscular Dystrophy in phase 2 study with an open-label extension study. Presented in the 2018 MDA meeting Mar 2018.

Estilow T, Glanzman AM, Powers K, Moll A, Flickinger J, Medne L, Tennekoon G, Yum SW: Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy. AJOT 72(2): 7202345010p1-7202345010p5, Mar/April 2018.

Matalon D, Dougherty P, Lulis L, Medne L, Krantz I, Yum SW, Ficicioglu. : The diagnosis and natural history of mucopolysaccharidosis type IVA in one family. Molecular genetics & metabolism 123(2): S92, Feb 2018.

Ortiz-González XR , Tintos-Hernández JA , Keller K , Li X , Foley AR , Bharucha-Goebel DX , Kessler SK , Yum SW , Crino PB , He M , Wallace DC, Bönnemann CG. : Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. Annal of Neurology 83(1): 153-165, Jan 2018.

Zaharieva I, Sarkozy A, Manzur A, Munot P, O'Grady G, Rendu J, Amthor H, Servais L, Dixon J, Poke G, Donkervoort S, A. Foley R, Oates EC, Holmes C, Williams G, Sframeli M, Yum SW, Medne L, Roy SQ, Fauré J, Feng L , Morgan JE, Bonnemann C, Phadke R, Sewry CA, Treves S, Muntoni F: STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutations 2018.

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Last updated: 09/04/2018
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