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Thyrotoxic Periodic Paralysis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Decoding Cryptogenic Cardioembolism
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Malignant Hyperthermia, Update on Susceptibility Testing
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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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
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Stroke in Williams Syndrome
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Cerebrovascular Complications of Fabry's Disease
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
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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
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Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
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Acute Intermittent Porphyria
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Hematologic Disorders and Ischemic Stroke
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Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
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MELAS Syndrome Involving a Mother & Two Children
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Central Core Disease, Clinical Features in 13 Patients
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Familial Hyperlipidemia in Stroke in the Young
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Identical Twins with Hereditary Hemorrhagic Telangiectasia Concordant for Cerebrovascular Arteriovenous Malformations
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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