Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Maryse Bonnières"'
Autor:
Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://doaj.org/article/9b32537b1afc4d558b6ef3e1937522ca
Autor:
Férechté Encha-Razavi, Sakkubai Naidu, Tania Attié-Bitach, Daniela T. Pilz, Neil Stoodley, Andrew E. Fry, Heather E. Olson, Jennifer Gardner, Sheila Palmer-Smith, Georgios Niotakis, Thomas D. Cushion, Julie S. Cohen, Hood Mugalaasi, Jonathan G. L. Mullins, Lucile Boutaud, Richard H Scott, Maryse Bonnières, P. Grant
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
Brain Sciences
Volume 8
Issue 8
Brain Sciences
Volume 8
Issue 8
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a99d5531c472be35d18eea3cd52882
http://www.mdpi.com/2076-3425/8/8/145
http://www.mdpi.com/2076-3425/8/8/145
Autor:
Annie Laquerrière, Dominique Bonneau, Fabien Guimiot, Françoise Menez, Bettina Bessières, Nicole Bigi, Agnès Liprandi, C. Bouchet, Dominique Figarella-Branger, Tania Attié-Bitach, Elisabeth Alanio, Dominique Gaillard, Stéphane Triau, Catherine Fallet-Bianco, Anne-Lise Delezoide, Madeleine Joubert, Martine Bucourt, Marie-José Perez, Pascale Marcorelles, Sophie Delahaye, Patricia Blanchet, Fanny Pelluard, Bernard Gasser, Maryse Bonnières, Louise Devisme, Sophie Patrier, Nicole Laurent, Marie Gonzales, Dominique Carles, Anne Bazin, Philippe Loget, B. Clarisse, Jelena Martinovic, Férechté Encha-Razavi, Sandrine Vuillaumier-Barrot, Caroline Rouleau, Nathalie Seta
Publikováno v:
Brain. 135:469-482
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum with cysts and brainstem hypoplasia. Cortical dysplasia r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0171aa9005be085d154ac9cfc4343182
https://doi.org/10.1093/brain/awr357
https://doi.org/10.1093/brain/awr357
Autor:
Pascale Marcorelles, Férechté Encha-Razavi, Bettina Bessieres-Grattagliano, Sandrine Vuillaumier-Barrot, Dominique Carles, F. Pelluard-Nehmé, Jelena Martinovic, Louise Devisme, S. Triau, Sophie Patrier, Fabien Guimiot, Maryse Bonnières, Nicole Laurent, Dominique Bonneau, S. Delahaye, Nathalie Seta, A. Liprandi, Dominique Figarella-Branger, C. Lebizec, Annie Laquerrière, Madeleine Joubert, C. Rouleau-Dubois, C. Bouchet, M.J. Perez, E. Alanio, Marie Gonzales, B. Gasser, Philippe Loget, Catherine Fallet-Bianco, F. Menez, N. Bigi, Anne Bazin, Dominique Gaillard, Patricia Blanchet
Publikováno v:
Human Mutation. 28:1020-1027
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41e4b47786e61780a2e77438956cf57
https://doi.org/10.1002/humu.20561
https://doi.org/10.1002/humu.20561