Cervical Dystonia:Clinical Findings and Associated Movement Disorders
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Genetic Aspects of Alzheimer Disease
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Niemann-Pick Disease Type C from Bench to Bedside
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Apolipoprotein E Genotype in Patients with Alzheimer's Disease:Implications for Risk of Dementia Among Relatives
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Monomelic Amyotrophy
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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A Clinical Study of Noonan Syndrome
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Clinical Genetics and Genetic Counseling in Alzheimer Disease
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Hereditary Neuropathy with Liability to Pressure Palsies
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Complex Ataxia
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Cranial Cavernous Malformations
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Essential Tremor
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Degenerative Diseases of the Nervous System, Cerebellar Degeneration
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
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