m.3685T>C is a Novel Mitochondrial DNA Variant That Causes Leigh Syndrome (original) (raw)
m.3685T>C is a Novel Mitochondrial DNA Variant That Causes Leigh Syndrome
Jeffrey Jean
Cold Spring Harbor molecular case studies, 2022
View PDFchevron_right
A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case
Teng-Fu Tsao
Pediatrics and neonatology, 2012
View PDFchevron_right
Leigh Syndrome: A Case Report with a Mitochondrial Dna Mutation
PAULA NATALI MARTINEZ FONSECA
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 2018
View PDFchevron_right
Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy
Mary Sweeney
Journal of the Neurological Sciences, 1994
View PDFchevron_right
Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees
Ervin Berényi
NeuroMolecular Medicine, 2010
View PDFchevron_right
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome
kuntal sen
Frontiers in Cell and Developmental Biology, 2021
View PDFchevron_right
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
Pascale Lonlay
Journal of Medical Genetics, 2003
View PDFchevron_right
Leigh syndrome in an infant resulting from mitochondrial DNA depletion
Cary Harding
Pediatric Neurology, 2001
View PDFchevron_right
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene
Ann Saada
Biochemical and Biophysical Research Communications, 2005
View PDFchevron_right
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report
sophie cagdas
BMC Neurology, 2011
View PDFchevron_right
Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family
Van Anh Pham
Molecular medicine reports, 2018
View PDFchevron_right
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome
Paula Waters
Cell Reports, 2015
View PDFchevron_right
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3
Ann Saada
Molecular Genetics and Metabolism, 2010
View PDFchevron_right
Leigh's disease (subacute necrotising encephalo myelopathy): a rare mitochondrial disorder
Nikita Tripathi
International Journal of Contemporary Pediatrics, 2016
View PDFchevron_right
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White
Baziel van Engelen
European Journal of Human Genetics, 2006
View PDFchevron_right
Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome
Alla Reddy
Acta Neurologica Scandinavica, 2006
View PDFchevron_right
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
Alfons Macaya
Annals of Neurology, 1993
View PDFchevron_right
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
Stephen Kahler
Annals of Neurology, 2000
View PDFchevron_right
Leigh Syndrome Due to mtDNA Pathogenic Variants
Laura Vilarinho
Journal of Inborn Errors of Metabolism and Screening, 2019
View PDFchevron_right
Leigh Syndrome: One disorder, more than 75 monogenic causes
S. Rahman
Annals of Neurology, 2015
View PDFchevron_right
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
James Miller
Journal of Neuromuscular Diseases, 2015
View PDFchevron_right
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome
Caroline Rambaud
The Journal of Pediatrics, 1997
View PDFchevron_right
The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past
Darryl C De Vivo
Annals of Neurology, 1998
View PDFchevron_right
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA
Joe Clarke
American Journal of Medical Genetics Part A, 2007
View PDFchevron_right
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2
J. Smeitink
Gene, 2013
View PDFchevron_right
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
Baziel van Engelen
Annals of Neurology, 1993
View PDFchevron_right
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Akira Ohtake
Journal of inherited metabolic disease, 2017
View PDFchevron_right