Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
Arch Neurol 36:553-556, Barron,S.A.,et al, 1979
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
Immune Checkpoint Inhibitor-Related Myositis and Myocarditis in Patients with Cancer
Neurol 91:e985-e994, Touat, M.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
A 51-year-old Woman with Weakness and Stiff Neck
Neurol 85:e32-e36, Kassardjian, C.D. & Milone, M., 2015
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Stem Cell Transplantation in a Patient With Late-Onset Nemaline Myopathy and Gammopathy
Neurol 71:531-532, Benveniste,O.,et al., 2008
Sporadic Late-Onset Nemaline Myopathy Effectively Treated by Melphalan and Stem Cell Transplant
Neurol 71:532-534,472, Voermans,N.C.,et al., 2008
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
Isolated Dropped Head Due to Adult-Onset Nemaline Myopathy Treated by Posterior Fusion
Neurol 65:1504-1505, Katirji,B.,et al, 2005
A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002
Diagnosis of X-Linked Myotubular Myopathy by Detection of Myotubularin
Ann Neurol 50:42-46, Laporte,J.,et al, 2001
Nemaline Myopathy:A Clinical Study of 143 Cases
Ann Neurol 50:312-320, Ryan,M.M.,et al, 2001
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,et al,, 1999
Adult-Onset Nemaline Myopathy:Another Cause of Dropped Head
Muscle & Nerve 22:1146-1150, Lomen-Hoerth,C.,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
Acute Myopathy of Intensive Care:Clinical, Electromyographic, and Pathological Aspects
Ann Neurol 40:645-654, Lacomis,D.,et al, 1996
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994
Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
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
Polymyalgia Rheumatica and Mitochondrial Myopathy:Clinicopathologic and Biochemical Studies in Five Cases
Am J Med 92:167-172, Harle,J.,et al, 1992
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
Neurol 42:545-550, Goto,Y.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991
Congenital Monomelic Hypertrophy with Progressive Myopathy
Arch Neurol 48:107-110, Shukla,A.,et al, 1991
Myopathy in Human Immunodeficiency Virus-Infected Children Receiving Long-Term Zidovudine Therapy
J Pediatr 119:152-155, Walter,E.B.,et al, 1991
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Complete Ophthalmoplegia as a Complication of Acute Corticosteroid-and Pancuronium-Associated Myopathy
Neurol 41:921-922, Sitwell,L.D.,et al, 1991
Night-Time Nasal Ventilation in Neuromuscular Disease
Lancet 335:579-582, Heckmatt,J.Z.,et al, 1990
Mitochondrial Myopathy Caused by Long-Term Ziduvudine Therapy
NEJM 322:1098-1105, Dalakas,M.C.,et al, 1990
Mitochondrial Myopathy with a Defect of Mitochondrial-Protein Transport
NEJM 323:37-42, Schapira,A.H.V.,et al, 1990
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
Mitochondrial Myopathies, Mechanisms Now Better Understood
BMJ 298:1127-1128, Schapira,A.H.V., 1989