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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Ehlers-Danlos Syndromes
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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An unusual cause of stroke and hypoxia
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Aicardi-Gouti�res Syndrome
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Hereditary Hemorrhagic Telangiectasia
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Acid Maltase Deficiency
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Sturge-Weber Syndrome
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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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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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Dopa-Responsive Dystonia Revisited
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Familiality in Brain Tumors
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Amyotrophic Lateral Sclerosis
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The Tuberous Sclerosis Complex
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Unusual Variants of Alexander's Disease
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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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Creutzfeldt-Jakob Disease in a Young Woman
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Brain Tumors
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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