Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
Mitochondrial Respiratory-Chain Diseases
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A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Cerebral Infarction Associated with Kearns-Sayre Syndrome-Related Cardiomyopathy
Neurol 46:826-828, Provenzale,J.M.,et al, 1996
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996
Atrophy of Bilateral Extraocular Muscles
J Neuro-Ophthalmol 16:286-288, Okamoto,K.,et al, 1996
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Mitochondrial DNA and Disease
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Myasthenic Symptoms in Patients with Mitochondrial Myopathies
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Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome
Stroke 26:1950-1952, Kosinski,C.,et al, 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Polymyalgia Rheumatica and Mitochondrial Myopathy:Clinicopathologic and Biochemical Studies in Five Cases
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Cardioskeletal Mitochondrial Myopathy Associated with Chronic Magnesium Deficiency
Neurol 42:128-130, Riggs,J.E.,et al, 1992
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) :Clin Features & DNA Mutation
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The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies
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Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
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Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
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Kearns-Sayre Syndrome Presenting as Renal Tubular Acidosis
Neurol 40:1761-1763, Eviatar,L.,et al, 1990
Graves Orbitopathy:Correlation of CT and Clinical Findings
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Kearns-Sayre Syndrome and Dilated Cardiomyopathy
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Perineural Spread of Cutaneous Head and Neck Cancer
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Mitochondrial Myopathy Caused by Long-Term Ziduvudine Therapy
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Mitochondrial Myopathy with a Defect of Mitochondrial-Protein Transport
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Mitochondrial DNA and Genetic Disease
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Mitochondrial Myopathies, Mechanisms Now Better Understood
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Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
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