Found: 22
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Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 883, doi. 10.1023/A:1013908728445
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- Publication type:
- Article
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
- Published in:
- 2000
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- Publication type:
- journal article
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S983, doi. 10.1007/s100720070016
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- Publication type:
- Article
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 1, p. 18, doi. 10.1111/cge.12841
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- Article
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
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- Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
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- Article
Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine.
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- 1997
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- Publication type:
- journal article
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 86, n. 3/4, p. 225, doi. 10.1159/000015344
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- Article
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 225, doi. 10.1159/000015344
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- Publication type:
- Article
OXPHOS and mtDNA alterations in a family with spastic paraparesis.
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- Acta Neurologica Scandinavica, 2000, v. 101, n. 4, p. 255, doi. 10.1034/j.1600-0404.2000.101004255.x
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- Publication type:
- Article
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
- Published in:
- 2001
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- Publication type:
- journal article
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
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- 1993
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- Publication type:
- journal article
Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.
- Published in:
- 2006
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- Publication type:
- Journal Article
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 758, doi. 10.1007/s10545-007-0702-z
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- Publication type:
- Article
Increased NO production in lysinuric protein intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 123, doi. 10.1007/s10545-005-5954-x
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- Publication type:
- Article
Glutathione in blood of patients with Friedreich's ataxia.
- Published in:
- European Journal of Clinical Investigation, 2001, v. 31, n. 11, p. 1007, doi. 10.1046/j.1365-2362.2001.00922.x
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- Publication type:
- Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
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- Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9519
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- Article
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.
- Published in:
- Acta Paediatrica, 2004, v. 93, n. s445, p. 65, doi. 10.1111/j.1651-2227.2004.tb03060.x
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- Article
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
- Published in:
- 2000
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- Publication type:
- Journal Article
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
- Published in:
- 1999
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- Publication type:
- journal article
Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
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- Publication type:
- Article
Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135
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- Publication type:
- Article
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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- Clinical Genetics, 1988, v. 34, n. 1, p. 31, doi. 10.1111/j.1399-0004.1988.tb02612.x
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- Publication type:
- Article