Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Cecile Barbance"'
Autor:
Florence Riant, Sylvain Redon, Christian Lucas, Laurence Le Moigno, Stéphane Auvin, Diana Ratiu, Agathe Roubertie, Nathalie Guy, Anne Donnet, Antoine Defo, Caroline Roos, Guillaume Baille, François Viallet, Elisabeth Tournier-Lasserve, Cecile Barbance, Alice Cahn, Nicolas Gaillard, Christel Thauvin, Caroline Rey, Florina Cata, Cécile Boulanger, Jessica Hadjadj, Evelyne Massardier, Emmanuel Cheuret, Sylvie Lamoureux, Geneviève Demarquay, Jean-Christophe Cuvellier, Anne Ducros, Marion Beltramone
Publikováno v:
Neurology. 98:e51-e61
Background and ObjectivePRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.MethodsPRRT2 was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3db7583c302a94f3cb28154c11a02de
https://doi.org/10.1212/wnl.0000000000012947
https://doi.org/10.1212/wnl.0000000000012947
Autor:
Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Amon
Externí odkaz:
https://doaj.org/article/fb86ff8596a34c3cb3123f177fde1632
Autor:
C. Ploton, Florence Riant, E. Tournier-Lasserve, Anne Ducros, Cecile Barbance, Christel Depienne
Publikováno v:
Neurology. 75:967-972
Objective: Hemiplegic migraine (HM) is a rare subtype of migraine with aura that may occur as a familial (FHM) or sporadic condition (SHM). Screening of FHM genes in previous series of patients with SHM detected a very low proportion of mutated patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1acd0a8addaaf1de9a24b0e34dbf517f
https://doi.org/10.1212/wnl.0b013e3181f25e8f
https://doi.org/10.1212/wnl.0b013e3181f25e8f
Autor:
Agnès Trébuchon, Cecile Barbance, Pascal Sabouraud, Elisabeth Tournier-Lasserve, Christel Depienne, Aurélie Méneret, Christian Lucas, Florence Riant, Emmanuel Roze, Lucie Guyant-Maréchal
Publikováno v:
ResearcherID
Objective: Hemiplegic migraine (HM) is a rare subtype of migraine with aura that occurs as a familial or sporadic condition. The 3 culprit genes identified so far do not account for all familial forms of HM. PRRT2 mutations have recently been shown t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04defdefc3ade0d24fa9d9f4259fd68c
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000311284300010&KeyUID=WOS:000311284300010
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000311284300010&KeyUID=WOS:000311284300010
