Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
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Robert W. Taylor | E. Bertini | R. Carrozzo | E. Holme | F. Santorelli | M. Bianchi | M. Duno | E. Ostergaard | F. Wibrand | P. Prontera | N. Darín | C. Dionisi-Vici | B. Woldseth | M. Tulinius | K. Ravn | A. N. Osorio | R. Mcfarland | D. Verrigni | I. Redonnet-Vernhet | J. Uusimaa | Päivi Vieira | Karin Naess | D. Cordelli | A. Born | F. Joensen | H. Amartino | R. Coo | M. Rasmussen | D. Buhas | S. Mesli | M. Batbayli | P. Jouvencel | A. Burlina | G. Stangoni | Robert W. Taylor
[1] S. Knuutila,et al. Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion , 2014, European Journal of Human Genetics.
[2] F. Santorelli,et al. A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria , 2015, Journal of child neurology.
[3] H. Andersson,et al. A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies , 2014, Molecular genetics and metabolism reports.
[4] H. Venselaar,et al. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. , 2014, JIMD reports.
[5] Brandy Klotzle,et al. The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine , 2013, Journal of Human Genetics.
[6] I. D. de Coo,et al. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders , 2013, Mitochondrion.
[7] M. Zeviani,et al. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing , 2012, Molecular genetics and metabolism.
[8] F. Tort,et al. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. , 2012, Molecular genetics and metabolism.
[9] K. Vesela,et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis , 2012, Journal of Inherited Metabolic Disease.
[10] K. Haginoya,et al. Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene , 2011, Pediatrics International.
[11] H. Shimada,et al. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. , 2011, Molecular genetics and metabolism.
[12] C. Richelme,et al. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein , 2010, Journal of Medical Genetics.
[13] H. Waterham,et al. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy , 2010, Pediatric Research.
[14] A. Munnich,et al. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. , 2010, Mitochondrion.
[15] L. Pérez-Jurado,et al. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. , 2010, Mitochondrion.
[16] M. Schwartz,et al. Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations , 2010, Muscle & nerve.
[17] E. Holme,et al. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria , 2010, European Journal of Pediatrics.
[18] R. Carrozzo,et al. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. , 2009, Mitochondrion.
[19] Robert W. Taylor,et al. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy , 2008, Neuromuscular Disorders.
[20] Morten Duno,et al. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. , 2007, American journal of human genetics.
[21] Simona Lucioli,et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. , 2007, Brain : a journal of neurology.
[22] M. Schwartz,et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. , 2007, Brain : a journal of neurology.
[23] Robert W. Taylor,et al. Biochemical assays of respiratory chain complex activity. , 2007, Methods in cell biology.
[24] G. Uziel,et al. A scale to monitor progression and treatment of mitochondrial disease in children , 2006, Neuromuscular Disorders.
[25] D. Lambeth. Reconsideration of the significance of substrate‐level phosphorylation in the citric acid cycle * , 2006, Biochemistry and molecular biology education : a bimonthly publication of the International Union of Biochemistry and Molecular Biology.
[26] Maria Bitner-Glindzicz,et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. , 2005, American journal of human genetics.
[27] A. Jauch,et al. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls , 2005, Neurogenetics.
[28] M. Zeviani,et al. Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.
[29] D. Lambeth,et al. Expression of Two Succinyl-CoA Synthetases with Different Nucleotide Specificities in Mammalian Tissues* , 2004, Journal of Biological Chemistry.
[30] D. Turnbull,et al. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. , 2001, Methods in cell biology.
[31] D. Lambeth,et al. Genetic Evidence for the Expression of ATP- and GTP-specific Succinyl-CoA Synthetases in Multicellular Eucaryotes* , 1998, The Journal of Biological Chemistry.
[32] E. Holme,et al. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. , 1991, The Journal of pediatrics.