Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A 44-year-old Woman with Rapidly Progressive Weakness and Ophthalmoplegia
Neurol 85:e22-e27, Schreck, K.C.,et al, 2015
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
Neurol 78:1527-1532, Matthews,E.,et al, 2012
Guillain-Barre Syndrome
NEJM 366:2294-2304, Yuki, N. & Hartung, H.P., 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Rapidly Evolving Myopathy with Myosin-Deficient Muscle Fibers
Ann Neurol 35:273-279, 2571994., Al-Lozi,M.T.,et al, 1994
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Duchenne Muscular Dystrophy Manifesting Carriers
Arch Neurol 46:673-675, Barkhaus,P.E.&Gilchrist,J.M., 1989
Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
Neurol 39:1011-1017, Hoffman,E.P.,et al, 1989
Inclusion Body Myositis, Observations in 40 Patients
Brain 112:727-747, Lotz,B.P.,et al, 1989