A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Wilson Disease
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Neuroimaging Changes in Menkes Disease, Part 1
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Hydrocephalus in Children
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Huntingtons Disease
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Decoding Cryptogenic Cardioembolism
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
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Hypertrophic Cardiomyopathy A Systematic Review
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De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Cerebrovascular Complications of Fabry's Disease
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Clinicopath Conf
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Clinicopath Conf
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Hematologic Disorders and Ischemic Stroke
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Familial Parkinsonism, Apathy, Weight Loss & Central Hypoventilation:Successful Long-Term Management
Neurol 38:637-639, Roy,E.P.,et al, 1988
Mendelian Etiologies of Stroke
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
NEJM 306:1320-1325, Clewell,W.H.,et al, 1982
Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Familial Stroke Syndrome Associated with Mitral Valve Prolapse
Ann Neurol 7:130-134, Rice,G.P.A.,et al, 1980
Familial Fatal Parkinsonism with Alveolar Hypoventilation & Mental Depression
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