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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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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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Spinal Muscular Atrophy A Timely Review
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Angelman Syndrome: Clinical Profile
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Huntington Disease: Clinical Features and Diagnosis
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Genomewide Association Studies of Stroke
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Genetic Factors in Alzheimer's Disease
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Natural History in Proximal Spinal Muscular Atrophy
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Clinical Genetics in Neurological Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
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Inherited Primary Peripheral Neuropathies
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
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Mental Retardation in Turner Syndrome
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Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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Fucosidosis Revisited:A Review of 77 Patients
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