Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Celine Guigon"'
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Autor:
Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
Publikováno v:
eLife, Vol 6 (2017)
Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response
Externí odkaz:
https://doaj.org/article/56f7045340a14393b3106a4985fe8175
Autor:
Clementine Marie, Alice Pierre, Anne Mayeur, Frank Giton, Michael Grynberg, Joelle Cohen-Tannoudji, Celine Guigon, Stephanie Chauvin
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::505d6b7e8ebc70a698704cad2735f416
https://doi.org/10.1530/endoabs.90.p451
https://doi.org/10.1530/endoabs.90.p451
Autor:
Clementine Marie, Raphael Corre, Alice Pierre, Celine Guigon, Joelle Cohen-Tannoudji, Stephanie Chauvin
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da61504090c92caabf21fdc59539199c
https://doi.org/10.1530/endoabs.90.oc4.4
https://doi.org/10.1530/endoabs.90.oc4.4
Publikováno v:
Neurobiology of Disease, Vol 26, Iss 2, Pp 452-463 (2007)
Dyskinesias represent a debilitating complication of levodopa therapy for Parkinson's disease (PD). While we recently demonstrated that levodopa-induced dyskinesia results from increased dopamine D1 receptor-mediated transmission, we also questioned
Externí odkaz:
https://doaj.org/article/d8ddc3d7993c4f52931c9a13ed6555a2
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::48901473a8237c3e1c4d2ac49e688407
http://europepmc.org/abstract/med/12773937
http://europepmc.org/abstract/med/12773937
Autor:
Birger Scholz, Marcus Svensson, Henrik Alm, Karl Sköld, Maria Fälth, Kim Kultima, Céline Guigoni, Evelyne Doudnikoff, Qin Li, Alan R Crossman, Erwan Bezard, Per E Andrén
Publikováno v:
PLoS ONE, Vol 3, Iss 2, p e1589 (2008)
L-3,4-dihydroxypheylalanine (L-dopa)-induced dyskinesia represent a debilitating complication of therapy for Parkinson's disease (PD) that result from a progressive sensitization through repeated L-dopa exposures. The MPTP macaque model was used to s
Externí odkaz:
https://doaj.org/article/073d7fe810194b57805c4854dc0d06d7