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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Juvenile Diabetes Mellitus & Optic Atrophy
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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The Limbic-Girdle Muscular Dystrophies
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The Autosomal Recessive Cerebellar Ataxias
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Mucolipidosis Type IV; Characteristic MRI Findings
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
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