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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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The Epilepsy of Trisomy 9p
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X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
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Angelman Syndrome: Clinical Profile
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Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Decoding Cryptogenic Cardioembolism
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Huntington Disease: Clinical Features and Diagnosis
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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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Dopamine-Responsive Dystonia
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Amyotrophic Lateral Sclerosis
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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X-Linked Malformation of Neuronal Migration
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Natural History in Proximal Spinal Muscular Atrophy
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Inherited Primary Peripheral Neuropathies
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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