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Supranuclear Gaze Palsy in Familial Creutzfeldt-Jakob Disease
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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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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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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 Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Myasthenic Symptoms in Patients with Mitochondrial Myopathies
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Vascular Malformations of the Central Nervous System
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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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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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Complex Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 54-year-old man with Dyspnea and Muscle Weakness
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A 42-year-old man with unilateral leg weakness
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017