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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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The Limbic-Girdle Muscular Dystrophies
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Malignant Hyperthermia, Update on Susceptibility Testing
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McArdle's Disease:Biochemical and Molecular Genetic Studies
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Phosphorylase Deficiency
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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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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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Muscular Dystrophies
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Wilson Disease
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Red Papules on the Tongue of a Patient with Hemiparesis
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Familial Temporal Lobe Epilepsy with Febrile Seizures
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Clinical and Genetic Aspects of Distal Myopathies
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Clinicopath Conf
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Stroke in Williams Syndrome
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Cerebrovascular Complications of Fabry's Disease
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