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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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Brain Tumors
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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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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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Dopamine-Responsive Dystonia
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Advances in the Genetics of Cerebrovascular Disease and Stroke
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Amyotrophic Lateral Sclerosis
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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Natural History in Proximal Spinal Muscular Atrophy
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Cockayne Syndrome: Review of 140 Cases
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Fucosidosis Revisited:A Review of 77 Patients
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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Spinal Muscular Atrophies
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Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Hypomelanosis of Ito:Association with a Chromosomal Abnormality
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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