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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Genetics of Cluster Headache Takes a Leap
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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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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Parkinson Disease Subtypes
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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The Roussy-Levy Family:From the Original Description to the Gene
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinical Genetics in Neurological Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
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Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
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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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Wilson Disease
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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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Brain Tumors
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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Genetic Linkage in Neurologic Diseases
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