A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Hydrocephalus in Children
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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Mitochondrial DNA Polymerase-y and Human Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Comparison of First Degree Relatives and Spouses of Poeple with Chronic Tension Headache
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
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Familial Occurrence of Cluster Headache
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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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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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Hereditary Hemorrhagic Telangiectasia
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Familial Cluster Headache:Occurrence in Three Generations
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Migraine:Theories of Pathogenesis
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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The First Report of Cluster Headache in Identical Twins
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Acute Intermittent Porphyria
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinicopath Conf
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Von Hippel-Lindau Disease in an Adolescent
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Mendelian Etiologies of Stroke
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Benign Sexual Headach within a Family
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Clinicopathological Conference
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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