MELAS
MedLink.com, August, Klopstock, T., 2012
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
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
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Longitudinally Extensive Transverse Myelitis in MELAS
Neurol 86:e37, Sgobbi de Souza, P.V.,et al, 2016
Recommendations for the Management of Strokelike Episodes in Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
JAMA 73:591-594, Koenig, M.K.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinico-Radiological Spectrum of Bilateral Temporal Lobe Hyperintensity: A Retrospective Review
Br J Radiol 85:e782-e792, Sureka, J. & Jakkani, R.K., 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010
Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
Stroke 40:e15-e17, Tzoulis,C. &Bindoff,L.A., 2009
Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
Clin Radiol 63:1245-1253, Sheerin,F.,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
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
Mitochondrial Disease and Stroke
Stroke 32:2507-2510, Martinez-Fernandez,E.,et al, 2001
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Cerebral Infarction Associated with Kearns-Sayre Syndrome-Related Cardiomyopathy
Neurol 46:826-828, Provenzale,J.M.,et al, 1996
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995
Evidence for Cardioembolic Stroke in a Case of Kearns-Sayre Syndrome
Stroke 26:1950-1952, Kosinski,C.,et al, 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
Mitochondrial DNA mutations in an Outbreak of Optic Neuropathy in Cuba
Neurol 44:843-845, Hirano,M.,et al, 1994
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
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
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 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