The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Late-Onset Mitochondrial Myopathy
Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease
AJNR 24:33-41, Lin,D.D.M.,et al, 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
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995
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
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
AJNR 26:695-701,687, Tardieu,M.,et al, 2005
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Mitochondrial Oxidative Phosphorylation Defects in Parkinson's Disease
Ann Neurol 30:332-339, 3301991., Shoffner,J.M.,et al, 1991