Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene
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Ž. Reiner | W. Sperl | Zoran Mitrović | J. Mayr | I. Barić | Tihomir Kekez | D. Muačević-Kataneć | K. Fumic | F. Zimmermann | L. Pažanin | D. Ramadža | L. C. Šojat
[1] Julien S. Baker,et al. Creatine-Kinase- and Exercise-Related Muscle Damage Implications for Muscle Performance and Recovery , 2012, Journal of nutrition and metabolism.
[2] J. Elson,et al. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations , 2011, Human mutation.
[3] E. Malfatti,et al. A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features , 2010, Journal of the Neurological Sciences.
[4] G. Pruijn,et al. Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects , 2010, European Journal of Human Genetics.
[5] P. Sanaker,et al. A novel mutation in the mitochondrial tRNA for tryptophan causing a late‐onset mitochondrial encephalomyopathy , 2010, Acta neurologica Scandinavica.
[6] Robert W. Taylor,et al. Mitochondrial DNA mutations and human disease. , 2010, Biochimica et biophysica acta.
[7] F. Kammoun,et al. Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. , 2009, Molecular genetics and metabolism.
[8] V. Tiranti,et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. , 2009, Biochimica et biophysica acta.
[9] Eduardo Ruiz-Pesini,et al. 20 years of human mtDNA pathologic point mutations: carefully reading the pathogenicity criteria. , 2009, Biochimica et biophysica acta.
[10] S. Dimauro,et al. A functionally dominant mitochondrial DNA mutation. , 2008, Human molecular genetics.
[11] R. Rigolio,et al. The mitochondrial genome, a growing interest inside an organelle , 2008, International journal of nanomedicine.
[12] F. Scaglia,et al. Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease , 2008, Muscle & nerve.
[13] A. Padovani,et al. Neuropathology of mitochondrial diseases , 2007, Bioscience reports.
[14] D. Meierhofer,et al. Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. , 2005, Mitochondrion.
[15] E. Shoubridge,et al. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. , 2005, Molecular genetics and metabolism.
[16] Robert W. Taylor,et al. A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome , 2004, European Journal of Human Genetics.
[17] J. Houštěk,et al. Reduced Respiratory Control with ADP and Changed Pattern of Respiratory Chain Enzymes as a Result of Selective Deficiency of the Mitochondrial ATP Synthase , 2004, Pediatric Research.
[18] C. Florentz,et al. Human mitochondrial tRNAs in health and disease , 2003, Cellular and Molecular Life Sciences CMLS.
[19] L. Wiklund,et al. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. , 2003, Neuropediatrics.
[20] S. Servidei. Mitochondrial encephalomyopathies: gene mutation , 2001, Neuromuscular Disorders.
[21] H. Dahl,et al. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. , 2001, American journal of medical genetics.
[22] S. Pääbo,et al. Mitochondrial genome variation and the origin of modern humans , 2000, Nature.
[23] P. Tonali,et al. A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency , 2000, Neurology.
[24] A. Schapira,et al. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects , 2000, The Lancet.
[25] N. Tan,et al. Temperature dependence of estrogen binding: importance of a subzone in the ligand binding domain of a novel piscine estrogen receptor. , 1999, Biochimica et biophysica acta.
[26] D. Turnbull,et al. Mitochondrial DNA analysis: polymorphisms and pathogenicity , 1999, Journal of medical genetics.
[27] N Howell,et al. Clinical mitochondrial genetics , 1999, Journal of medical genetics.
[28] J. Taanman,et al. The mitochondrial genome: structure, transcription, translation and replication. , 1999, Biochimica et biophysica acta.
[29] S. Krähenbühl,et al. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease. , 1998, Biochemical and biophysical research communications.
[30] S. Servidei,et al. A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene , 1998, Neuromuscular Disorders.
[31] S. Dimauro,et al. Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene , 1997, Annals of neurology.
[32] M W Feldman,et al. Genetic absolute dating based on microsatellites and the origin of modern humans. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[33] E. Holme,et al. Mitochondrial DNA Deletions in Muscle Fibers in Inclusion Body Myositis , 1995, Journal of neuropathology and experimental neurology.
[34] F. Scaravilli,et al. A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study , 1995, Annals of neurology.
[35] E. Shoubridge,et al. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). , 1992, American journal of human genetics.
[36] D. Turnbull,et al. Mitochondrial DNA mutations in aging. , 2014, Progress in molecular biology and translational science.
[37] S. Dimauro,et al. Protean phenotypic features of the A3243G mitochondrial DNA mutation. , 2009, Archives of neurology.
[38] S. Servidei. Mitochondrial encephalomyopathies: gene mutation. Vol. 10 No. 2, February 2000. , 2000, Neuromuscular disorders : NMD.
[39] Shamkant B. Navathe,et al. MITOMAP: a human mitochondrial genome database--1998 update , 1998, Nucleic Acids Res..