Aicardi-Gouti�res Syndrome
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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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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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
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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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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Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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