Parkin Disease
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Parkinsons Disease and Genetics
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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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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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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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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Complete Genomic Screen in Parkinson Disease
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The Genetics of Alzheimer Disease, Current Status and Future Prospects
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Muscular Dystrophies
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Neurological Management of Von Hippel-Lindau Disease
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Parkinson Disease Subtypes
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
a-Synuclein Gene Duplication Is Present in Sporadic Parkinson Disease
Neurol 70:43-49,7, Ahn,T.-B.,et al, 2008
A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Collaborative Analysis of a-Synuclein Gene Promotor Variability and Parkinson Disease
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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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Alzheimer's Disease and Parkinson's Disease
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Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
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Evidence for an Alzheimer Disease Susceptability Locus on Chromosome 12 and for Further Locus Heterogeneity
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
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Creutzfeldt-Jakob Disease in a Young Woman
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A Gene for Parkinson's Disease
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Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Familial Alzheimer's Disease
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Brain Tumors
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