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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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 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
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
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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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 Gait Impairment, Hearing Loss, and Recurrent Fever
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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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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Genome Sequencing in the NICU and PICU is Here to Stay
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023