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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
By:
- Di Nottia, M.;
- Masciullo, M.;
- Verrigni, D.;
- Petrillo, S.;
- Modoni, A.;
- Rizzo, V.;
- Di Giuda, D.;
- Rizza, T.;
- Niceta, M.;
- Torraco, A.;
- Bianchi, M.;
- Santoro, M.;
- Bentivoglio, A.R.;
- Bertini, E.;
- Piemonte, F.;
- Carrozzo, R.;
- Silvestri, G.
Publication type:
Article
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
By:
- Verrigni, D.;
- Diodato, D.;
- Di Nottia, M.;
- Torraco, A.;
- Bellacchio, E.;
- Rizza, T.;
- Tozzi, G.;
- Verardo, M.;
- Piemonte, F.;
- Tasca, G.;
- D'Amico, A.;
- Bertini, E.;
- Carrozzo, R.
Publication type:
Article
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Published in:
Clinical Genetics, 2017, v. 91, n. 3, p. 441, doi. 10.1111/cge.12790
By:
- Torraco, A.;
- Bianchi, M.;
- Verrigni, D.;
- Gelmetti, V.;
- Riley, L.;
- Niceta, M.;
- Martinelli, D.;
- Montanari, A.;
- Guo, Y.;
- Rizza, T.;
- Diodato, D.;
- Di Nottia, M.;
- Lucarelli, B.;
- Sorrentino, F.;
- Piemonte, F.;
- Francisci, S.;
- Tartaglia, M.;
- Valente, E.M.;
- Dionisi‐Vici, C.;
- Christodoulou, J.
Publication type:
Article
Food Preferences and Dietary Intakes of Filipino Adolescents in Metro Manila, The Philippines.
Published in:
Malaysian Journal of Nutrition, 2011, v. 17, n. 1, p. 31
By:
- Magbuhat, T. Rizza Marie;
- Borazon, Elaine Q.;
- Villarino, J. Blanca
Publication type:
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
By:
- Carrozzo, R;
- Rizza, T;
- Lucioli, S;
- Pierini, R;
- Bertini, E;
- Santorelli, FM
Publication type:
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
By:
- R. Carrozzo;
- B. Bornstein;
- S. Lucioli;
- Y. Campos;
- P. de la Pena;
- N. Petit;
- C. Dionisi-Vici;
- L. Vilarinho;
- T. Rizza;
- E. Bertini;
- R. Garesse;
- F.M. Santorelli;
- J. Arenas
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
By:
- R. Carrozzo;
- B. Bornstein;
- S. Lucioli;
- Y. Campos;
- P. de la Pena;
- N. Petit;
- C. Dionisi?Vici;
- L. Vilarinho;
- T. Rizza;
- E. Bertini;
- R. Garesse;
- F.M. Santorelli;
- J. Arenas
Publication type:
Article

Found: 7

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Food Preferences and Dietary Intakes of Filipino Adolescents in Metro Manila, The Philippines.

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.

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).

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.