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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Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Wilson Disease
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Amyotrophic Lateral Sclerosis
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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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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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Amyotrophic Lateral Sclerosis
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Unusual Variants of Alexander's Disease
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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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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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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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Neurofibromatosis Type I in Children
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