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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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A 52-year-old Woman with Progressive Proximal Weakness
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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The Limbic-Girdle Muscular Dystrophies
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Glycogen-Storage Disease Type II
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
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Mucolipidosis Type IV; Characteristic MRI Findings
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CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Inclusion Body Myositis and Myopathies
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Progressive Multifocal Leukoencephalopathy Complicating Wiskott-Aldrich Syndrome
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Benign Familial Disease with Muscle Mounding and Rippling
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The Nondystrophic Myotonias
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Tibial Muscular Dystrophy
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Autosomal Recessive Distal Dystrophy
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Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
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Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
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Neurologic Crises in Hereditary Tyrosinemia
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Congenital Muscular Dystrophy
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Characterization of Dystrophin in Muscle-Biopsy Spec from Pts with Duchenne's or Becker's Muscular Dystrophy
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Hereditary Neuropathy with Liability to Pressure Palsies
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