Leigh Syndrome Due to mtDNA Pathogenic Variants
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L. Vilarinho | L. Vedolin | F. Vairo | C. D. Souza | C. Nogueira | C. Sobreira | C. Lorea | C. Pereira
[1] C. Bris,et al. Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing , 2018, Front. Genet..
[2] R. Saneto,et al. The Application of Clinical Genetics Dovepress the Genetics of Leigh Syndrome and Its Implications for Clinical Practice and Risk Management , 2022 .
[3] J. V. Van Hove,et al. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. , 2013, Mitochondrion.
[4] E. Mayatepek,et al. Teaching NeuroImages: Rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency , 2013, Neurology.
[5] Li Chieh Chen,et al. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects , 2013, Human mutation.
[6] M. Zeviani,et al. MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I , 2012, Neuromuscular Disorders.
[7] Robert W. Taylor,et al. The clinical spectrum of the m.10191T>C mutation in complex I‐deficient Leigh syndrome , 2012, Developmental medicine and child neurology.
[8] K. Seong,et al. Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases , 2010, Experimental & Molecular Medicine.
[9] N. Larsson,et al. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. , 2009, Biochimica et biophysica acta.
[10] V. Tiranti,et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. , 2009, Biochimica et biophysica acta.
[11] J. Finsterer. Leigh and Leigh-like syndrome in children and adults. , 2008, Pediatric neurology.
[12] M. Hirano,et al. Biochemical and genetic analysis of Leigh syndrome patients in Korea , 2008, Brain and Development.
[13] M. Zeviani,et al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. , 2007, Brain : a journal of neurology.
[14] I. D. de Coo,et al. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease , 2007, Journal of Medical Genetics.
[15] A. Munnich,et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia , 2007, American journal of medical genetics. Part A.
[16] R. Rodenburg,et al. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. , 2007, Molecular genetics and metabolism.
[17] L. Singh,et al. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome , 2006, Acta neurologica Scandinavica.
[18] E. Holme,et al. Two new mutations in the MTATP6 gene associated with Leigh syndrome. , 2005, Neuropediatrics.
[19] M. Zeviani,et al. Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.
[20] D. Turnbull,et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS , 2004, Journal of Medical Genetics.
[21] N. Bresolin,et al. A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality , 2004, Pediatric Research.
[22] J. Montoya,et al. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene , 2003, Annals of neurology.
[23] G. Comi,et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome , 2003, Neurology.
[24] E. Zimmerman,et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency , 2003, Neurology.
[25] Y. Goto,et al. A novel mtDNA C11777A mutation in Leigh syndrome. , 2003, Mitochondrion.
[26] M. Hanna,et al. Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations? , 2003, Annals of neurology.
[27] A. Vighetto,et al. Leigh‐like encephalopathy complicating Leber's hereditary optic neuropathy , 2002, Annals of neurology.
[28] Robert W Taylor,et al. Leigh disease associated with a novel mitochondrial DNA ND5 mutation , 2002, European Journal of Human Genetics.
[29] Robert W. Taylor,et al. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene , 2001, Annals of neurology.
[30] V. Tiranti,et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients , 2001, Annals of neurology.
[31] R. Carrozzo,et al. The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli , 2000, FEBS letters.
[32] S. Dimauro,et al. G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid Lys Gene: Another Cause of Leigh Syndrome , 2000, Journal of child neurology.
[33] V. Tiranti,et al. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. , 2000, Human molecular genetics.
[34] S. Dimauro,et al. The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families , 1999, Journal of the Neurological Sciences.
[35] S. Dimauro,et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. , 1997, Biochemical and biophysical research communications.
[36] S. Dimauro,et al. Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene , 1997, Annals of neurology.
[37] N. Howell,et al. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease , 1996, Neurology.
[38] Dominic Thyagarajan,et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis , 1995, Annals of neurology.
[39] D. Wallace,et al. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[40] F. Gabreëls,et al. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome , 1993, Annals of neurology.
[41] S. Tsuji,et al. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. , 1990, Biochemistry international.
[42] A. Harding,et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. , 1990, American journal of human genetics.
[43] D. Leigh. SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.