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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Parkinson's Disease
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Cerebral Involvement in McLeod Syndrome
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Progressive Language Disorder Due to Lobar Atrophy
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Metabolic Disease and Stroke: MELAS
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Hypertrophic Cardiomyopathy A Systematic Review
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Molecular Genetics in Neurology
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The Biology of Developmental Dyslexia
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Causal Heterogeneity in Isolated Lissencephaly
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Preclinical Detection of Parkinson's Disease
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
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Dementia in Down's Syndrome:Cerebral Glucose Utilization, Neuropsychological Assessment, and Neuropathology
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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The Combined Use of Positron Emission Tomography & DNA Polymorphisms for Preclinical Detection of Huntington's Disease
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Alzheimer's Disease
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Familial Stroke Syndrome Associated with Mitral Valve Prolapse
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Angiokeratoma Corporis Diffusum
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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Genome Sequencing in the NICU and PICU is Here to Stay
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RNF213 Polymorphisms in Intracranial Artery Dissection
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
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