Suchergebnisse - "Shieh, Perry B"

PubPharm (116)

101

Duchenne muscular dystrophy: clinical trials and emerging tribulations

enthalten in: Current opinion in neurology | 2015

von Shieh, P.

102

Clinical exome sequencing for genetic identification of rare Mendelian disorders

enthalten in: JAMA | 2014

von Lee, H. | Deignan, J. | Dorrani, N. | +18

CommentIn: JAMA. 2014 Nov 12;312(18):1865-7. - PMID 25326641

103

Muscular dystrophies and other genetic myopathies

enthalten in: Neurologic clinics | 2013

von Shieh, P.

104

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

enthalten in: Neurology | 2013

von Ceyhan-Birsoy, O. | Agrawal, P. | Hidalgo, C. | +15

CommentIn: Neurology. 2013 Oct 1;81(14):1189-90. - PMID 23975873

105

Severe congenital RYR1-associated myopathy : the expanding clinicopathologic and genetic spectrum

enthalten in: Neurology | 2013

von Bharucha-Goebel, D. | Santi, M. | Medne, L. | +10

ErratumIn: Neurology. 2013 May 28;80(22):2081 Zukosky, Kristin [corrected to Zukosky, Kristen]

106

Clinical Neurogenetics: Muscular Dystrophies and Other Genetic Myopathies

enthalten in: Neurologic clinics | 2013

von Shieh, P.

107

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

enthalten in: Nature genetics | 2012

von Wan, J. | Yourshaw, M. | Mamsa, H. | +23

108

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

enthalten in: Nature genetics | 2012

von Wan, J. | Yourshaw, M. | Mamsa, H. | +23

109

Limb-girdle muscular dystrophy 2H and the role of TRIM32

enthalten in: Handbook of clinical neurology | 2011

von Shieh, P. | Kudryashova, E. | Spencer, M.

110

Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy

enthalten in: Developmental dynamics : an official publication of the American Association of Anatomists | 2008

von Hao, M. | Akrami, K. | Wei, K. | +7

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