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 Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
Clin Radiol 63:1245-1253, Sheerin,F.,et al, 2008
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
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
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
MELAS
MedLink.com, August, Klopstock, T., 2012
Alzheimers Disease
NEJM 362:329-344, Querfurth,H.W. &LaFerla,F.M., 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
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
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Recurrent Strokes in a 34-Year-Old Man
Lancet 350:560, Chinnery,P.F.,et al, 1997
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,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
Adult Reye's Syndrome:A Review with New Evidence for a Generalized Defect in Intramitochondrial Enzyme Processing
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Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987