Parkin Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Muscular Dystrophies
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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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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
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Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Aicardi-Gouti�res Syndrome
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Spinal Muscular Atrophy
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Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 2006
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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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
Ann Neurol 46:794-798, Nygaard,T.G.,et al, 1999
The Genetics of Alzheimer Disease, Current Status and Future Prospects
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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
JAMA 280:614-618, 6521998., Rogaeva,E.,et al, 1998
Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
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
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
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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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994
Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994
Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
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The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990
Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
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Acid Maltase Deficiency
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