The Autosomal Recessive Cerebellar Ataxias
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Neuroimaging Features of Biotinidase Deficiency
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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
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Wilson Disease
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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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Parkin Disease
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A 23-Year-Old Man With Seizures and Visual Deficit
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
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Unusual Variants of Alexander's Disease
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Parkinson's Disease
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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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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Spinocerebellar Ataxias and Ataxins
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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The Dystonias
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Homing in on Wilson's Disease
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