More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Alzheimers Disease
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Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Wilson Disease
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Genetic Predisposition to Iatrogenic Creutzfeldt-Jakob Disease
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Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
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The Spongiform Encephalopathies, Editorial
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Spinal Muscular Atrophy
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"Disappearing Infarct" Is Late-Onset MELAS
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Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Pediatric Leigh Syndrome
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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