Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Aicardi-Gouti�res Syndrome
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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RNF213 Polymorphisms in Intracranial Artery Dissection
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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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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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Fibromuscular Dysplasia and Its Neurologic Manifestations
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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, Friedreich Ataxia
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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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Dopa-Responsive Dystonia Revisited
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Genes Associated With Adult Cerebral Venous Thrombosis
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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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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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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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New Players in the Genetics of Stroke
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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N-Acetylcysteine Therapy for Unverricht-Lundborg 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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The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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