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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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The Spectrum of Fragile X Disorders
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Genome Sequencing in the NICU and PICU is Here to Stay
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 53-year-old Woman with Lower Extremity Paresthesias
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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The Autosomal Recessive Cerebellar Ataxias
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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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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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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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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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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The Tuberous Sclerosis Complex
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Genetics of Parkinsons Disease and Parkinsonism
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Malignant Hyperthermia, Update on Susceptibility Testing
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Adrenoleukodystrophy
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Hypertrophic Cardiomyopathy A Systematic Review
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What Level of Care for the Neurofibromatoses?
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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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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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Practice Parameter:Genetic Testing Alert
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Molecular Genetic Advances in Fragile X Syndrome
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Molecular Genetics in Neurology
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
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Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
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