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Renal involvement in mitochondrial cytopathies.
- Published in:
- Nephrology Dialysis Transplantation, 1996, v. 11, n. 5, p. 760, doi. 10.1093/oxfordjournals.ndt.a027391
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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.
- Published in:
- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
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- Publication type:
- Article
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
- Published in:
- Human Reproduction, 2023, v. 38, n. 5, p. 992, doi. 10.1093/humrep/dead052
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- Publication type:
- Article
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352006
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- Publication type:
- Article
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192
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- Publication type:
- Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
- Published in:
- 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
Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome.
- Published in:
- 2021
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- Publication type:
- journal 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
Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S154, doi. 10.1002/mus.880181430
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- Publication type:
- Article
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S159, doi. 10.1002/mus.880181431
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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
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
- Published in:
- 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
- By:
- 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
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
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
- Published in:
- British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
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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.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
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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.
- Published in:
- 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
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
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
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 765, doi. 10.1172/JCI29089
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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
The kidney in mitochondrial cytopathies.
- Published in:
- 1997
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- Publication type:
- Editorial
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9319
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- Publication type:
- Article
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy(Communicated by Henrik Dahl).
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 582, doi. 10.1002/humu.10225
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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.
- Published in:
- Médecine Sciences, 2017, v. 33, n. 12, p. 1045, doi. 10.1051/medsci/20173312009
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- Publication type:
- Article
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 210, doi. 10.1093/brain/awq273
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- Publication type:
- Article
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 705, doi. 10.1111/dmcn.14814
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- Publication type:
- Article
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
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- Publication type:
- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937
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- Publication type:
- Article
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 2047, doi. 10.1002/humu.23657
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- Publication type:
- Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562
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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
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1445, doi. 10.1093/hmg/ddy441
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- Publication type:
- Article
Mouse models for mitochondrial diseases.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. R2, p. R115, doi. 10.1093/hmg/ddw176
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- Publication type:
- Article
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 4, p. 715, doi. 10.1093/hmg/ddv509
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- Publication type:
- 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
Epileptic phenotypes in children with respiratory chain disorders.
- Published in:
- 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
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3273, doi. 10.1093/hmg/11.26.3273
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- Publication type:
- Article
Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2061, doi. 10.1093/hmg/10.19.2061
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- Publication type:
- Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221
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- Publication type:
- Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1221, doi. 10.1093/hmg/10.11.1221
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- Publication type:
- Article
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
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- Publication type:
- Article