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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Pediatric Leigh Syndrome
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Muscular Dystrophies
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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The Autosomal Recessive Cerebellar Ataxias
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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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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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The Floppy Infant: Evaluation of Hypotonia
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Aicardi-Gouti�res Syndrome
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
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Trinucleotide Repeat Expansion in Neurological Disease
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Molecular Genetics in Neurology
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
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Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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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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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Preclinical Detection of Parkinson's Disease
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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