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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
- Published in:
- 1999
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- Publication type:
- journal article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
- Published in:
- 2000
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- Publication type:
- journal article
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246
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- Publication type:
- Article
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
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- Publication type:
- Article
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
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- Clinical Genetics, 2017, v. 92, n. 2, p. 188, doi. 10.1111/cge.12985
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
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- Publication type:
- journal article
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
- Published in:
- 2013
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- Publication type:
- journal article
Epileptic phenotypes in children with respiratory chain disorders.
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- Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1225, doi. 10.1111/j.1528-1167.2009.02504.x
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- Publication type:
- Article
Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2028, doi. 10.3390/ijms21062028
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- Publication type:
- Article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
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- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 765, doi. 10.1172/JCI29089
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- Publication type:
- Article
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 2, p. 445, doi. 10.3390/life13020445
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- Publication type:
- Article
Séquençage d'exome et de transcriptome : des approches complémentaires pour identifier des gènes impliqués dans la survenue de maladies.
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- Médecine Sciences, 2017, v. 33, n. 12, p. 1045, doi. 10.1051/medsci/20173312009
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- Article
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
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- British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
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- Publication type:
- Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2007, v. 39, n. 6, p. 776, doi. 10.1038/ng2040
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- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
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- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
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- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
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- Publication type:
- Article
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
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- BMC Biochemistry, 2003, v. 4, p. 1
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- Publication type:
- Article
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
- Published in:
- 2001
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- Publication type:
- journal article
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
- Published in:
- Prenatal Diagnosis, 1992, v. 12, n. 6, p. 548, doi. 10.1002/pd.1970120614
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
- Published in:
- 2006
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- Publication type:
- Journal Article
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 3, p. 227
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- Publication type:
- Article
Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1433, doi. 10.1210/jc.2007-1701
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- Publication type:
- Article
Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 10, p. 4771, doi. 10.1210/jc.2002-020525
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- Publication type:
- Article
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
- Published in:
- Human Genetics, 2009, v. 124, n. 6, p. 649, doi. 10.1007/s00439-008-0588-3
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- Publication type:
- Article
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 563, doi. 10.1007/s00439-002-0884-2
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- Publication type:
- Article
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
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- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
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- Publication type:
- Article
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192
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- Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 528, doi. 10.1038/ejhg.2012.202
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- Publication type:
- Article
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- 2007
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- Publication type:
- Correction Notice
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 917, doi. 10.1038/sj.ejhg.5201627
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- Publication type:
- Article
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 289, doi. 10.1038/sj.ejhg.5200793
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- Publication type:
- Article
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.
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- EMBO Journal, 2012, v. 31, n. 5, p. 1293, doi. 10.1038/emboj.2011.477
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- Publication type:
- Article
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
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- Human Reproduction, 2023, v. 38, n. 5, p. 992, doi. 10.1093/humrep/dead052
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- Publication type:
- Article
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
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- Cell Death & Differentiation, 2010, v. 17, n. 12, p. 1855, doi. 10.1038/cdd.2010.51
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- Publication type:
- Article
Efficiency of metabolic screening in childhood cardiomyopathies.
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- European Heart Journal, 1998, v. 19, n. 5, p. 790, doi. 10.1053/euhj.1997.0818
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- Publication type:
- Article
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 210, doi. 10.1093/brain/awq273
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- Publication type:
- Article
Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 6, p. 579, doi. 10.1002/ana.21207
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- Publication type:
- Article
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 705, doi. 10.1111/dmcn.14814
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- Publication type:
- Article
Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 41, doi. 10.1002/jimd.12604
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- Publication type:
- Article
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B<sub>12</sub>.
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- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 159, doi. 10.1007/s10545-009-1023-1
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- Publication type:
- Article
Continuous measurement of oxaloacetate in purified mitochondria from the leaves of Kalanchoë blossfeldiana.
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- Physiologia Plantarum, 1985, v. 63, n. 2, p. 201, doi. 10.1111/j.1399-3054.1985.tb01903.x
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- Publication type:
- Article
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
- Published in:
- Neurogastroenterology & Motility, 2011, v. 23, n. 1, p. 24, doi. 10.1111/j.1365-2982.2010.01595.x
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- Publication type:
- Article
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
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- Pediatric Nephrology, 2005, v. 20, n. 4, p. 465, doi. 10.1007/s00467-004-1725-4
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- Publication type:
- Article
A case of Pearson syndrome associated with multiple renal cysts.
- Published in:
- Pediatric Nephrology, 1996, v. 10, n. 5, p. 637, doi. 10.1007/s004670050178
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- Publication type:
- Article