A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Bilateral Hearing Loss and Constricted Visual Fields
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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
NEJM 385:1317-1325, Case 30-2021, 2021
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Hydrocephalus in Children
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Red Papules on the Tongue of a Patient with Hemiparesis
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Metabolic Disease and Stroke: MELAS
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The Tuberous Sclerosis Complex
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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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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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von Hippel-Lindau Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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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
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Mucolipidosis Type IV; Characteristic MRI Findings
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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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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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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Acquired Ocular Visual Impairment in Children, 1960-1989
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