Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004
Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
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
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Clinico-Radiological Spectrum of Bilateral Temporal Lobe Hyperintensity: A Retrospective Review
Br J Radiol 85:e782-e792, Sureka, J. & Jakkani, R.K., 2012
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
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 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
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995
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
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
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
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
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 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
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987