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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
- D. Klionsky, Kotb Abdelmohsen, S. Zughaier
- BiologyAutophagy
- 18 April 2012
TLDR
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
- E. G. de Jorge, C. Harris, S. D. de Córdoba
- Biology, MedicineProceedings of the National Academy of Sciences
- 2 January 2007
TLDR
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
- C. Abarrategui-Garrido, R. Martinez-Barricarte, M. López-Trascasa, S. D. de Córdoba, P. Sánchez-Corral
- Biology, MedicineBlood
- 5 November 2009
The factor H-related protein family (CFHR) is a group of minor plasma proteins genetically and structurally related to complement factor H (fH). Notably, deficiency of CFHR1/CFHR3 associates with…
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
- J. Serratosa, P. Gómez-Garre, S. D. de Córdoba
- Biology, PsychologyHuman molecular genetics
- 1 February 1999
TLDR
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
- M. Pickering, E. G. de Jorge, M. Botto
- Biology, MedicineThe Journal of experimental medicine
- 11 June 2007
TLDR
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.
- P. Sánchez-Corral, D. Pérez-Caballero, S. D. de Córdoba
- Biology, MedicineAmerican journal of human genetics
- 1 December 2002
TLDR
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.
- A. Tortajada, T. Montes, R. Martinez-Barricarte, B. Morgan, C. Harris, S. D. de Córdoba
- BiologyHuman molecular genetics
- 15 September 2009
TLDR
New approaches to the treatment of dense deposit disease.
- Richard J. H. Smith, J. Alexander, P. Zipfel
- MedicineJournal of the American Society of Nephrology…
- 1 September 2007
TLDR
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
- D. Gale, E. G. de Jorge, M. Pickering
- Medicine, BiologyThe Lancet
- 4 September 2010
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
- A. Zatkova, D. B. de Bernabé, S. D. de Córdoba
- BiologyAmerican journal of human genetics
- 1 November 2000
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