相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion
Sanna Matilainen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
A Novel SUCLA2 Mutation in a Portuguese Child Associated With Mild Methylmalonic Aciduria
Celia Nogueira et al.
JOURNAL OF CHILD NEUROLOGY (2015)
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
Megan L. Landsverk et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2014)
The novel mutation p.Asp251Asn in the beta-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine
Elham Jaberi et al.
JOURNAL OF HUMAN GENETICS (2013)
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
R. J. T. Rodenburg et al.
MITOCHONDRION (2013)
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
Tomas Honzik et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
Costanza Lamperti et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients
Aleix Navarro-Sastre et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder
Linda M. Randolph et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
Osamu Sakamoto et al.
PEDIATRICS INTERNATIONAL (2011)
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Elsebet Ostergaard et al.
EUROPEAN JOURNAL OF PEDIATRICS (2010)
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
C. Rouzier et al.
JOURNAL OF MEDICAL GENETICS (2010)
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
Henry Rivera et al.
MITOCHONDRION (2010)
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria
Vassili Valayannopoulos et al.
MITOCHONDRION (2010)
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
Johan L. K. Van Hove et al.
PEDIATRIC RESEARCH (2010)
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
Eva Morava et al.
MITOCHONDRION (2009)
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy
Emma Blakely et al.
NEUROMUSCULAR DISORDERS (2008)
Deficiency of the a subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
Elsebet Ostergaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo et al.
BRAIN (2007)
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
Elsebet Ostergaard et al.
BRAIN (2007)
A scale to monitor progression and treatment of mitochondrial disease in children
C. Phoenix et al.
NEUROMUSCULAR DISORDERS (2006)
Reconsideration of the significance of substrate-level phosphorylation in the citric acid cycle
DO Lambeth
BIOCHEMISTRY AND MOLECULAR BIOLOGY EDUCATION (2006)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
B Janssen et al.
NEUROGENETICS (2005)
Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues
DO Lambeth et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Clinical and molecular findings in children with complex I deficiency
M Bugiani et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)