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
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.
Permanent link
 

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

Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN) : Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) Neurology 89(9): 927-935, August 2017.

Cornett KM, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T,Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ,Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group : Natural history of Charcot-Marie-Tooth disease during childhood Annals of Neurology Page: doi: 10.1002/ana.25009, August 2017.

Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F,Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L,Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. : Common and variable clinical, histological,and imaging findings of recessive RYR1-related centronuclear myopathy patients Neuromuscul Disord May 2017.

Tiao J, Feng R, Berger EM, Brandsema JF, Coughlin CC, Khan N, Kichula EA, Lerman MA, Lvovich S, McMahon PJ, Rider LG, Rubin AI, Scalzi LV, Smith DM, Taxter AJ, Treat JR, Williams RP, Yum SW, Okawa J, Werth VP : Evaluation of the reliability of the Cutaneous Dermatomyositis Disease Area and Severity Index and the Cutaneous Assessment Tool-Binary Method in juvenile dermatomyositis among paediatric dermatologists, rheumatologists and neurologists Br J Dermatol April 2017.

Donovan J, Vandenborne KHE, Sweeney L, Tennekoon G, Finanger E, Yum S, Shieh P, Mancini M, Bista P, Nichols A, Finkel R: Move DMD Results: Effects of Edasalonexent, an NF-kB Inhibitor, in 4 to 7 Year Old Patients with Duchenne Muscular Dystrophy. Neurology 88(16 Supplement ): P3.210, April 2017.

Yang M, Yum S, Yang L. : Vein of Trolard thrombosis. Neurol India 65(2): 425, Mar-April 2017.

Zaharieva I, Sarkozy A Manzur A, Munot P, O’Grady G, Rendu J, Amthor H, Servais L, Malfatti E, Dixon J, Poke G, Donkervoort S, Foley AR, Neto OLA, Davis MR, Urtizberea JA, Bastaki L, Romero NB, Oates EC, Holmes C, Williams G, Sframeli M, Yum S Medne L, Roy SQ, Fauré J, Feng L, Morgan JE, Bönnemann CG, Phadke R, Sewry CA, Treves S, Muntoni F: STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia. Neuromuscul Disord 27(1): S39 March 2017.

Yum SW: Hypotonia and weakness. Comprehensive Pediatric Hospital Medicine, 2nd ed. Lisa Zaoutis and Vincent Chiang (eds.). McGraw‐Hill, 2017.

Beggs AH, Byrne B, de Chastonay S, Haselkorn T, Hughes I, James E, Kuntz N, Simon J, Swanson LC, Yang M, Yu ZF, Yum SW, Prasad S: A Multicenter, Retrospective Medical Record Review of Patients with X-Linked Myotubular Myopathy (XLMTM): The RECENSUS Study. Poster presentation in the 2017 MDA Scientific Conference 2017.

Finanger E, Vandenborne K, Finkel R, Sweeney H, Tennekoon G, Yum S, Mancini M, Danis, Bista P, Nichols A, Donovan J: CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD). Neuromuscul Disord 26(Supplement 2): S157, October 2016.

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Last updated: 09/26/2017
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