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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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A Teenager with Shortness of Breath and Difficulty Walking
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A Neonate with Micrognathia and Hypotonia
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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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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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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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Central Core Disease, Clinical Features in 13 Patients
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Congenital Myotonic Dystrophy
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Glycogen-Storage Disease Type II
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A Floppy Child with Failure to Thrive
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Transsection of the Spinal Cord Associated with Breech Delivery
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Congenital Inflammatory Myopathy
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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The Cerebrohepatorenal (Zellweger) Syndrome
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Lumbosacral Radiculomyelitis Assoc with Pandemic Acute Hemorrhagic Conjunctivitis
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The Neuropathy of Acute Intermittent Porphyria
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