Degenerative Diseases of the Nervous System, Parkinson Disease
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A 23-Year-Old Man With Seizures and Visual Deficit
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
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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Alzheimers Disease
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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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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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Neurological Management of Von Hippel-Lindau Disease
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Parkinson Disease Subtypes
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Parkin Disease
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Dopa-Responsive Dystonia Revisited
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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 Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
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Diagnosis and New Treatments in Muscular Dystrophies
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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a-Synuclein Gene Duplication Is Present in Sporadic Parkinson Disease
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
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Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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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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Collaborative Analysis of a-Synuclein Gene Promotor Variability and Parkinson Disease
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Parkinsons Disease and Genetics
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Genetics of Parkinsons Disease and Parkinsonism
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
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Parkinson's Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Alzheimer's Disease and Parkinson's Disease
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Complete Genomic Screen in Parkinson Disease
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Gene for Parkinson's Disease
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Natural History in Proximal Spinal Muscular Atrophy
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Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinical Genetics in Neurological Disease
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