A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Teenager with Shortness of Breath and Difficulty Walking
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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The Floppy Infant: Evaluation of Hypotonia
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Case 35-2006: A Newborn Boy with Hypotonia
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A Floppy Child with Failure to Thrive
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Congenital Muscular Dystrophy
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Clin. Path. Conference
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The Neuropathy of Acute Intermittent Porphyria
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