Niemann-Pick Disease Type C from Bench to Bedside
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Supranuclear Gaze Palsy in Familial Creutzfeldt-Jakob Disease
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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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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
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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Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
Neurol 51:1185-1187, Rehany,U.,et al, 1998
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995
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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Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990
Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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Myasthenic Abduction Nystagmus in a Patient with Hyperthyroidism
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The Oculopharyngeal Syndrome
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