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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Fits and Strokes
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Wilson Disease
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
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Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals
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The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
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Genetic Aspects of Alzheimer Disease
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Tuberous Sclerosis Complex: A Tale of Two Genes
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
, Chabriat, H., Joutel A., Vahedi, K., Tournier-Lasserve, &E., Bousser M.G., 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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