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Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 4, p. 833
By:
- Felix Distelmaier;
- Werner J.H. Koopman;
- Lambertus P. van den Heuvel;
- Richard J. Rodenburg;
- Ertan Mayatepek;
- Peter H.G.M. Willems;
- Jan A.M. Smeitink
Publication type:
Article
Phosphorylation and Desensitization of the Pancreatic Cholecystokinin-A Receptor.
Published in:
Digestion, 1997, v. 58, n. S2, p. 75, doi. 10.1159/000201548
By:
- Willems, Peter H.G.M.;
- Smeets, Rolf L.L.;
- Bosch, Remko R.;
- De Pont, Jan Joep E.M.M.
Publication type:
Article
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
By:
- Szklarczyk, Radek;
- Wanschers, Bas F. J.;
- Nijtmans, Leo G.;
- Rodenburg, Richard J.;
- Zschocke, Johannes;
- Dikow, Nicola;
- van den Brand, Mariël A. M.;
- Hendriks-Franssen, Marthe G. M.;
- Gilissen, Christian;
- Veltman, Joris A.;
- Nooteboom, Marco;
- Koopman, Werner J. H.;
- Willems, Peter H.G.M.;
- Smeitink, Jan A. M.;
- Huynen, Martijn A.;
- van den Heuvel, Lambertus P.
Publication type:
Article
Mitochondrial processes are impaired in hereditary inclusion body myopathy.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 23, p. 3663, doi. 10.1093/hmg/ddn261
By:
- Eisenberg, Iris;
- Novershtern, Noa;
- Itzhaki, Zohar;
- Becker-Cohen, Michal;
- Sadeh, Menachem;
- Willems, Peter H.G.M.;
- Friedman, Nir;
- Koopman, Werner J.H.;
- Mitrani-Rosenbaum, Stella
Publication type:
Article
Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit.
Published in:
IUBMB Life, 2013, v. 65, n. 3, p. 202, doi. 10.1002/iub.1127
By:
- Breuer, Megan E.;
- Willems, Peter H.G.M.;
- Smeitink, Jan A.M.;
- Koopman, Werner J.H.;
- Nooteboom, Marco
Publication type:
Article
Hormone-stimulated Ca<sup>2+</sup> reabsorption in rabbit kidney cortical collecting system is cAMP-independent and involves a phorbol ester-insensitive PKC isotype.
Published in:
Kidney International, 1999, v. 55, n. 1, p. 225, doi. 10.1046/j.1523-1755.1999.00228.x
By:
- HOENDEROP, JOOST G.J.;
- DE PONT, JAN JOEP H.H.M.;
- BINDELS, RENÉ J.M.;
- WILLEMS, PETER H.G.M.
Publication type:
Article

Found: 6

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Phosphorylation and Desensitization of the Pancreatic Cholecystokinin-A Receptor.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Mitochondrial processes are impaired in hereditary inclusion body myopathy.

Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit.

Hormone-stimulated Ca<sup>2+</sup> reabsorption in rabbit kidney cortical collecting system is cAMP-independent and involves a phorbol ester-insensitive PKC isotype.