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Clinical Reasoning: A Teenager with Left Arm Weakness
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Child with Delayed Motor Milestones and Ptosis
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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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A Neonate with Micrognathia and Hypotonia
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Facial Nerve is Liable to Pressure Palsy
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
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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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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
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Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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REcurrent Familial Brachial Plexus Palsies as the ONly Clinical Expression of'Tomaculous'Neuropathy
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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