Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
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
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
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
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
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 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
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Diffuse Leukodystrophy with a Large-Scale Mitochondrial DNA Deletion
Lancet 343:1397-1398, Nakai,A.,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
The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies
Arch Neurol 49:158-160, Kartsounis,L.D.,et al, 1992
Mitochondrial Encephalomyopathy with Associated Aminoacidopathy in a Male Sibship
J Pediatr 115:81-88, Sooth,F.A.,et al, 1989
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984