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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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A 6-Year-Old Girl with Progressive Toe Walking
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Neurodegeneration with Brain Iron Accumulation
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Huntington Disease: Clinical Features and Diagnosis
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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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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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Dopamine-Responsive Dystonia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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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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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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The Epilepsy of Trisomy 9p
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The Inherited Ataxias and the New Genetics
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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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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Dopamine, Dystonia, and the Deficient Co-Factor
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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 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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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wilson Disease
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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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Angelman Syndrome: Clinical Profile
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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The Triumph of Linkage Analysis, Editorial
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Genetic Markers for Neurofibromatosis
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Neurological Findings in Patients with the Fragile-X Syndrome
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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