The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
The Syndrome of MELAS Presenting without Stroke
Arch Neurol 50:275-278, Mosewich,R.K.,et al, 1993
Cerebral Blood Flow in Mitochondrial Myopathy, Encephalopathy, lactic Acidosis, & Strokelike episodes
Stroke 24:304-309, Ooiwa,Y.,et al, 1993
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993
Evidence for Mitochondrial Dysfunction in Patients with Alternating Hemiplegia of Childhood
Ann Neurol 33:604-607, Arnold,D.L.,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
The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies
Arch Neurol 49:158-160, Kartsounis,L.D.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992
Adult Reye's Syndrome:A Review with New Evidence for a Generalized Defect in Intramitochondrial Enzyme Processing
Neurol 41:1815-1821, VanCoster,R.N.,et al, 1991
Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991
N-Isopropyl-p- (123I) Iodoamphetamine SPECT in MELAS Syndrome:Comparison with CT & MR Imaging
J Comput Assist Tomogr 15:77-82, Satoh,M.,et al, 1991
Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Magnetic Resonance Imaging Shows Specific Abnormalities in the MELAS Syndrome
Neurol 41:1043-1046, Matthews,P.M., 1991
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991
Mitochondrial Oxidative Phosphorylation Defects in Parkinson's Disease
Ann Neurol 30:332-339, 3301991., Shoffner,J.M.,et al, 1991
Mitochondrial Dysfunction in Multiple Symmetrical Lipomatosis
Ann Neurol 29:566-569, Berkovic,S.F.,et al, 1991
Kearns-Sayre Syndrome Presenting as Renal Tubular Acidosis
Neurol 40:1761-1763, Eviatar,L.,et al, 1990
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
MR Findings in Patients with Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)
AJR 154:1269-1274, Medina,L.,et al, 1990
Mitochondrial Myopathy Caused by Long-Term Ziduvudine Therapy
NEJM 322:1098-1105, Dalakas,M.C.,et al, 1990
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Kearns-Sayre Syndrome and Dilated Cardiomyopathy
Neurol 40:553-554, Tveskov,C.&Angelo-Nielsen,K., 1990
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990
Fluctuating MR Images with Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-Like Syndrome (MELAS)
Neuroradiology 32:77, Abe,K.,et al, 1990
Mitochondrial Myopathy with a Defect of Mitochondrial-Protein Transport
NEJM 323:37-42, Schapira,A.H.V.,et al, 1990
Mitochondrial Encephalomyopathy (MELAS) with Mental Disorder, CT, MRI and SPECT Findings
Neuroradiology 32:74-76, Suzuki,T.,et al, 1990
Magnetic Resonance Imaging in MELAS Syndrome
Neuroradiology 32:168-171, Rosen,L.,et al, 1990
Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
Ann Neurol 26:699-708, Hold,I.J.,et al, 1989
Mitochondrial Myopathies, Mechanisms Now Better Understood
BMJ 298:1127-1128, Schapira,A.H.V., 1989
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
NEJM 320:1293-1299, Moraes,C.T.,et al, 1989
Mitochondrial Encephalomyopathy with Associated Aminoacidopathy in a Male Sibship
J Pediatr 115:81-88, Sooth,F.A.,et al, 1989
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
A Defect in Mitochondrial Electron-Transport Activity in Leber's Hereditary Optic Neuropathy
NEJM 320:1331-1333, Parker,W.D.,et al, 1989
Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989
Leigh Disease:Value of CT in Presymptomatic Patients and Variability of the Lesions with Time
J Comput Assist Tomogr 13:207-210, Taccone,A.,et al, 1989
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Diagnosis & Follow-up of Mitochondrial Encephalomyopathy:CT and MR Studies
J Comput Assist Tomogr 12:696-697, Taverni,N.,et al, 1988
Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988