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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Neuroimaging Features of Biotinidase Deficiency
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Amyotrophic Lateral Sclerosis
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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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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Clinical and Genetic Aspects of Distal Myopathies
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Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Sturge-Weber Syndrome
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
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Recurrent Cerebral Ischemia During Pregnancies
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Neurological Management of Von Hippel-Lindau Disease
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Unusual Variants of Alexander's Disease
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Sensorineural Hearing Loss in Children
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The Hereditary Spastic Paraplegias
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Amyotrophic Lateral Sclerosis
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Hereditary Spastic Paraparesis: A Review of New Developments
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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The Roussy-Levy Family:From the Original Description to the Gene
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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