Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Guilaine Mathieu"'
Autor:
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin
Publikováno v:
Neurobiology of Disease, Vol 98, Iss , Pp 36-51 (2017)
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the
Externí odkaz:
https://doaj.org/article/758f697767cc456fb129803b2625c7b9
Publikováno v:
Biochemical and Biophysical Research Communications. 636:84-88
Pregnenolone (P5) is a steroid that functions in the brain and in zebrafish embryogenesis. It is synthesized from cholesterol via the enzymatic activity of P450scc, encoded by CYP11A1. P5 exerts its function by activating CLIP1, which in turn promote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::231e1b22ff9a5bb8355f180d0faaeeb5
https://doi.org/10.1016/j.bbrc.2022.10.067
https://doi.org/10.1016/j.bbrc.2022.10.067
Autor:
Arnaud Picard, Angèle Tingaud-Sequeira, Estelle Lopez, Sandrine Marlin, Annick Toutain, Benoit Arveiler, Sabine Charron, Marie Berenguer, Françoise Denoyelle, Didier Lacombe, Caroline Rooryck, Guilaine Mathieu, Patrick J. Babin, Harmony De Belvalet
Publikováno v:
Journal of Medical Genetics. 53:752-760
Background Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6332223a6df2be98e3b3eb2498d587e3
https://doi.org/10.1136/jmedgenet-2016-103774
https://doi.org/10.1136/jmedgenet-2016-103774
Autor:
Estelle, Lopez, Marie, Berenguer, Angèle, Tingaud-Sequeira, Sandrine, Marlin, Annick, Toutain, Françoise, Denoyelle, Arnaud, Picard, Sabine, Charron, Guilaine, Mathieu, Harmony, de Belvalet, Benoit, Arveiler, Patrick J, Babin, Didier, Lacombe, Caroline, Rooryck
Publikováno v:
Journal of medical genetics. 53(11)
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Althoug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5357c615e516ba7c27ace39f9f6e43d5
https://pubmed.ncbi.nlm.nih.gov/27358179
https://pubmed.ncbi.nlm.nih.gov/27358179
Autor:
Amadeu M.V.M. Soares, B. Lynn Escalon, Francesc Padrós, Eduardo Rial, Mark A. Arick, Jérôme Cachot, Demetrio Raldúa, Patrick J. Babin, Antonio Zorzano, Florane Le Bihanic, Natàlia Garcia-Reyero, Guilaine Mathieu, David Sebastián, Melissa Faria, Anja Knoll-Gellida, Eva Prats
Publikováno v:
Scientific Reports. 6
Terrorist use of organophosphorus-based nerve agents and toxic industrial chemicals against civilian populations constitutes a real threat, as demonstrated by the terrorist attacks in Japan in the 1990 s or, even more recently, in the Syrian civil wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a488a1acf2fec5a3ba44101a9bdbd08f
https://doi.org/10.1038/srep17244
https://doi.org/10.1038/srep17244
Autor:
Eduardo Rial, Natàlia Garcia-Reyero, Amadeu M.V.M. Soares, Mark A. Arick, David Sebastián, Patrick J. Babin, Guilaine Mathieu, Antonio Zorzano, Anja Knoll-Gellida, Demetrio Raldúa, Francesc Padrós, Florane Le Bihanic, Melissa Faria, Eva Prats, B. Lynn Escalon, Jérôme Cachot
Publikováno v:
Scientific Reports
Recercat. Dipósit de la Recerca de Catalunya
instname
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Recercat. Dipósit de la Recerca de Catalunya
instname
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
15 p.-7 fig. Faria, Melissa et al.
Terrorist use of organophosphorus-based nerve agents and toxic industrial chemicals against civilian populations constitutes a real threat, as demonstrated by the terrorist attacks in Japan in the 1990 s or, ev
Terrorist use of organophosphorus-based nerve agents and toxic industrial chemicals against civilian populations constitutes a real threat, as demonstrated by the terrorist attacks in Japan in the 1990 s or, ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc672f188108dab940472ecdda4e1e6
https://pubmed.ncbi.nlm.nih.gov/26738741
https://pubmed.ncbi.nlm.nih.gov/26738741