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
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Sensorineural Hearing Loss in Children
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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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The Hereditary Spastic Paraplegias
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Prader-Willi and Angelman Syndromes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Anderson-Fabry Disease
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Recurrent Cerebral Ischemia During Pregnancies
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Wilson Disease
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Amyotrophic Lateral Sclerosis
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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, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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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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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Aicardi-Gouti�res Syndrome
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Spinal Muscular Atrophy
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Clinical and Genetic Aspects of Distal Myopathies
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Hereditary Spastic Paraparesis: A Review of New Developments
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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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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Creutzfeldt-Jakob Disease in a Young Woman
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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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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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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