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Spinal Muscular Atrophy
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A Teenager with Shortness of Breath and Difficulty Walking
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A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Glycogen-Storage Disease Type II
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Clinicopath Conf
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
The Neuropathology of Glycine Encephalopathy:Five Cases with Immunohistochemical & Ultrastructural Observations
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The Neuropathy of Acute Intermittent Porphyria
Quart J Med 38:307, 1969 July., Ridley,A., 1969
Early Severe Infantile Botulism
J Pediatr 122:909-911, Hurst,D.L.&Marsh,W.W., 1993
Rett Syndrome:Natural History and Management
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