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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Published in:
2005
By:
- Giusti B;
- Lucarini L;
- Pietroni V;
- Lucioli S;
- Bandinelli B;
- Sabatelli P;
- Squarzoni S;
- Petrini S;
- Gartioux C;
- Talim B;
- Roelens F;
- Merlini L;
- Topaloglu H;
- Bertini E;
- Guicheney P;
- Pepe G
Publication type:
Journal Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Published in:
Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9519
By:
- Dimmock, D. P.;
- Zhang, Q.;
- Dionisi-Vici, C.;
- Carrozzo, R.;
- Shieh, J.;
- Tang, L-Y;
- Truong, C.;
- Schmitt, E.;
- Sifry-Platt, M.;
- Lucioli, S.;
- Santorelli, F.M.;
- Ficicioglu, C.H.;
- Rodriguez, M.;
- Wierenga, K.;
- Enns, G.M.;
- Longo, N.;
- Lipson, M.H.;
- Vallance, H.;
- Craigen, W.J.;
- Scaglia, F.
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: 5

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

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.