Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Christel, Michel"'
Autor:
Mohammed Moudjou, Fabienne Reine, Davy Martin, Armand Perret-Liaudet, Isabelle Quadrio, Christel Michel, Olivier Andreoletti, Human Rezaei, Naima Aron, Guillaume Fichet, Laetitia Herzog, Vincent Béringue, Angélique Igel-Egalon
Publikováno v:
Brain Communications
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2021, 3 (2), ⟨10.1093/braincomms/fcab092⟩
Brain Communications, 2021, 3 (2), ⟨10.1093/braincomms/fcab092⟩
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2021, 3 (2), ⟨10.1093/braincomms/fcab092⟩
Brain Communications, 2021, 3 (2), ⟨10.1093/braincomms/fcab092⟩
Prions are neurotropic pathogens composed of misfolded assemblies of the host-encoded prion protein PrPC which replicate by recruitment and conversion of further PrPC by an autocatalytic seeding polymerization process. While it has long been shown th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609a06952a07b8084c0bc3a5197e77e8
https://hal.inrae.fr/hal-03475406/document
https://hal.inrae.fr/hal-03475406/document
Autor:
Josseline Kaplan, Tania Attié-Bitach, Christian P. Hamel, Christel Michel, Isabelle Perrault, Xavier Gérard, Sophie Thomas, Hélène Dollfus, Nicolas Goudin, Mickael Soussan, Iris Barny, Marlène Rio, Jean-Michel Rozet
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, ⟨10.1093/hmg/ddy179⟩
Human Molecular Genetics, Oxford University Press (OUP), 2018, ⟨10.1093/hmg/ddy179⟩
International audience; CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using panel-based molecular diagnosis testing for inherited retinal diseases, we identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da71fef27aa1310e103928d32d05f779
https://doi.org/10.1093/hmg/ddy179
https://doi.org/10.1093/hmg/ddy179
Autor:
Imad Ghazi, Isabelle Perrault, Nicolas Goudin, Jean-Michel Rozet, Josseline Kaplan, Sabine Defoort-Dhellemmes, Iris Barny, Christel Michel, Xavier Gérard
Publikováno v:
Genes, Vol 10, Iss 5, p 368 (2019)
Genes, vol. 10, no. 5
Genes, vol. 10, no. 5
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies. In recent years, endogenous and/or selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d1b3289409a8e17d29649a47b30231
https://www.mdpi.com/2073-4425/10/5/368
https://www.mdpi.com/2073-4425/10/5/368
Autor:
Iris, Barny, Isabelle, Perrault, Christel, Michel, Nicolas, Goudin, Sabine, Defoort-Dhellemmes, Imad, Ghazi, Josseline, Kaplan, Jean-Michel, Rozet, Xavier, Gerard
Publikováno v:
Genes
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies. In recent years, endogenous and/or selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a868b258d0af3baea4fd529e6cc7146f
https://pubmed.ncbi.nlm.nih.gov/31091803
https://pubmed.ncbi.nlm.nih.gov/31091803
Autor:
Edwige Quillet, Nicolas Dechamp, Caroline Hervet, Francine Krieg, Céline Chantry-Darmon, Mekki Boussaha, Aurélie Berard, Laurens, V., Tatiana Rochat, Eric Duchaud, Pierre Boudinot, Jean Francois Bernardet, Christel Michel
Publikováno v:
HAL
Proceedings, 10th World Congress of Genetics Applied to Livestock Production
Proceedings, 10th World Congress of Genetics Applied to Livestock Production
absent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3f4a4c4a7d3d771e145c9ba4b88a2b26
https://hal.archives-ouvertes.fr/hal-01194147
https://hal.archives-ouvertes.fr/hal-01194147