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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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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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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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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Natural History in Proximal Spinal Muscular Atrophy
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Clinical Genetics in Neurological Disease
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Unstable DNA Sequence in Myotonic Dystrophy
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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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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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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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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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