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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Neurological Management of Von Hippel-Lindau Disease
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Angelman Syndrome: Clinical Profile
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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CT in Ceroid Lipofuscinosis
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
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Familial Chorea & Myoclonus Epilepsy
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Genetic Counseling in Retinitis Pigmentosa
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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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
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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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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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More Than a Little Unsteady
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Complex Ataxia
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Pediatric Leigh Syndrome
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