A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Angelman Syndrome Revisited
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Parkinsons Disease and Genetics
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Complete Genomic Screen in Parkinson Disease
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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Hereditary Form of Parkinsonism-Dementia
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Progressive Language Disorder Due to Lobar Atrophy
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Migraine:Theories of Pathogenesis
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Preclinical Detection of Parkinson's Disease
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A Large Kindred with Autosomal Dominant Parkinson's Disease
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Refsum Disease
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Friedreich Ataxia
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Clinicopathological Conference
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Niemann-Pick Type C Disease
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Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
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Melas Syndrome
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