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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A 6-Year-Old Girl with Progressive Toe Walking
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Spinal Muscular Atrophy A Timely Review
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Neurofibromatosis Type 2
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Neurologic Manifestations of von Hippel-Lindau Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Dopamine-Responsive Dystonia
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Learning Disability
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Amyotrophic Lateral Sclerosis
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Facial Nerve is Liable to Pressure Palsy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Spinocerebellar Ataxias and Ataxins
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Clinical Genetics in Neurological Disease
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Wilson Disease
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Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Fucosidosis Revisited:A Review of 77 Patients
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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Genetic Linkage in Neurologic Diseases
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False Negative Results in Patients with fra (X) (q) Mental Retardation Taking Oral Vitamin Supplements
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Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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