Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Sturge-Weber Syndrome
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Alzheimers Disease
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Wilson Disease
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Genomewide Association Studies of Stroke
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Genetic Factors in Alzheimer's Disease
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Alzheimer's Disease and Parkinson's Disease
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001
Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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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
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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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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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994
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
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
Wilson Disease
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Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
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