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Pediatric Nephrology (Berlin, Germany)|March 20, 2003
New aspects of the pathogenesis of cystinosisVasiliki Kalatzis, Corinne AntignacHuman Molecular Genetics|May 7, 2004
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosinVasiliki Kalatzis, Nathalie Nevo, Stéphanie Cherqui, et al.Journal of the American Society of Nephrology : JASN|September 20, 2001
Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in BrittanyVasiliki Kalatzis, Stéphanie Cherqui, Geneviève Jean, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 23, 2009
Renal phenotype of the cystinosis mouse model is dependent upon genetic backgroundNathalie Nevo, Marie Chol, Anne Bailleux, et al.Neurobiology of Aging|November 6, 2007
Cystine accumulation in the CNS results in severe age-related memory deficitsTangui Maurice, Claire Hippert, Nicolas Serratrice, et al.Human Mutation|November 21, 2002
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosisVasiliki Kalatzis, Lola Cohen-Solal, Béatrice Cordier, et al.Journal of the American Society of Nephrology : JASN|July 26, 2002
Immunolocalization of cystinosin, the protein defective in cystinosisMushfequr R Haq, Vasiliki Kalatzis, Marie-Claire Gubler, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|June 26, 2008
Gene transfer may be preventive but not curative for a lysosomal transport disorderClaire Hippert, Grégor Dubois, Carole Morin, et al.Molecular and Cellular Biology|October 9, 2002
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisStéphanie Cherqui, Caroline Sevin, Ghislaine Hamard, et al.Pediatric Research|June 29, 2007
The ocular anomalies in a cystinosis animal model mimic disease pathogenesisVasiliki Kalatzis, Nicolas Serratrice, Claire Hippert, et al.Pageof 26