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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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A 23-Year-Old Man With Seizures and Visual Deficit
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Unusual Variants of Alexander's Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinical Spectrum of CADASIL:A Study of 7 Families
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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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Sturge-Weber Syndrome
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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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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Neurological Management of Von Hippel-Lindau Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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An unusual cause of stroke and hypoxia
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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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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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Aicardi-Gouti�res Syndrome
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Familiality in Brain Tumors
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
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Parkinson's Disease
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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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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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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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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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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Hereditary Hemorrhagic Telangiectasia
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