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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neurodegeneration with Brain Iron Accumulation
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Neurofibromatosis Type 2
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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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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 Hereditary Spastic Paraplegias
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Hereditary Spastic Paraparesis: A Review of New Developments
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Cockayne Syndrome: Review of 140 Cases
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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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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Corneal Opacification in Infancy
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 6-Year-Old Girl with Progressive Toe Walking
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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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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Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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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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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Facial Nerve is Liable to Pressure Palsy
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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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X-Linked Malformation of Neuronal Migration
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Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
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Natural History in Proximal Spinal Muscular Atrophy
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Clinical Significance of Fetal Choroid Plexus Cysts
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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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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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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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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Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Brain Tumors
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