Mendelian Etiologies of Stroke
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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Hereditary Form of Parkinsonism-Dementia
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Is There a Familial Carpal Tunnel Syndrome? An Evaluation and Literature Review
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Neurofibromatosis Type I in Children
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Hematologic Disorders and Ischemic Stroke
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Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Multiple Sclerosis & Systemic Lupus Erythematosus, Occurrence in Two Generations of the Same Family
Arch Int Med 147:1317-1320, Sloan,J.B.,et al, 1987
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Periodic Meningitis & Familial Mediterranean Fever
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Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Famillial Carpal Tunnel Syndrome
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Clinical Syndromes of Myasthenia in Infancy & Childhood
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Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
Ann Neurol 3:464, Waybright,E.A.,et al, 1978
Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978
Systemic Membrane Defect in the Proximal Muscular Dystrophies
NEJM 299:841-846, Pickard,N.A.,et al, 1978
Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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