Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Guillaume Fromager"'
Autor:
Rodrigue Rossignol, Isabelle Coupry, Michel Koenig, Magalie Barth, Cyril Goizet, Nadège Bellance, Dominique Bonneau, Agnès Guichet, Diana Rodriguez, Christelle M. Durand, Nada Houcinat, Julie Bouron, Sébastien Moutton, Julie Lavie, Sandra Chantot-Bastaraud, Julie Pilliod, Alexandra Durr, Karine Nguyen, Alexis Brice, Didier Hannequin, Giovanni Benard, Mathieu Anheim, Perrine Charles, Christel Thauvin-Robinet, Alexandra Afenjar, Elise Maurat, Guillaume Fromager, Patrick Berquin, Didier Lacombe, Caroline Rooryck, Dan Milea, Sylvie Forlani, Philippe Convers, Elisabeth Maillart, Christophe Verny, Stéphanie Valence, Julien Van-Gils, Fanny Mochel, Christophe Hubert, Giovanni Stevanin, Lucie Guyant-Maréchal, Lydie Burglen, Gaetan Lesca
Publikováno v:
Annals of Neurology. 78:871-886
Objective Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77d8d717e293a2894b2671b2288cd457
https://doi.org/10.1002/ana.24509
https://doi.org/10.1002/ana.24509
Autor:
Gaël, Nicolas, Cyril, Pottier, Camille, Charbonnier, Lucie, Guyant-Maréchal, Isabelle, Le Ber, Jérémie, Pariente, Pierre, Labauge, Xavier, Ayrignac, Luc, Defebvre, David, Maltête, Olivier, Martinaud, Romain, Lefaucheur, Olivier, Guillin, David, Wallon, Boris, Chaumette, Philippe, Rondepierre, Nathalie, Derache, Guillaume, Fromager, Stéphane, Schaeffer, Pierre, Krystkowiak, Christophe, Verny, Snejana, Jurici, Mathilde, Sauvée, Marc, Vérin, Thibaud, Lebouvier, Olivier, Rouaud, Christel, Thauvin-Robinet, Stéphane, Rousseau, Anne, Rovelet-Lecrux, Thierry, Frebourg, Dominique, Campion, Didier, Hannequin
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. 〈10.1093/brain/awt255〉
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. 〈10.1093/brain/awt255〉
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
International audience; Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58594ee47bec531d370b31c9ac373aac
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01133847
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01133847
Autor:
Papeix, Caroline1 (AUTHOR) caroline.papeix@aphp.fr, Castelnovo, Giovanni2 (AUTHOR), Leray, Emmanuelle3 (AUTHOR), Coustans, Marc4 (AUTHOR), Levy, Pierre5 (AUTHOR), Visy, Jean-Marc6 (AUTHOR), Kobelt, Gisela7 (AUTHOR), Lamy, Fabienne8 (AUTHOR), Allaf, Bashar8 (AUTHOR), Heintzmann, François8 (AUTHOR), Chouette, Isabelle8 (AUTHOR), Raponi, Eric8 (AUTHOR), Durand, Barbara8 (AUTHOR), Grevat, Emmanuelle8 (AUTHOR), Kamar, Driss9 (AUTHOR), Debouverie, Marc10 (AUTHOR), Lebrun-Frenay, Christine11 (AUTHOR), The Virgile Study Group (AUTHOR), Abdelmoumni, Abdelhakim (AUTHOR), Al Aloucy, Mouhmmad Jamal (AUTHOR)
Publikováno v:
Neurology & Therapy. Jun2022, Vol. 11 Issue 2, p633-658. 26p.
Autor:
Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin‐Robinet, Christel, Verny, Christophe, Milea, Dan, Lesca, Gaëtan, Koenig, Michel, Rodriguez, Diana, Houcinat, Nada, Van‐Gils, Julien, Durand, Christelle M., Guichet, Agnès
Publikováno v:
Annals of Neurology; Dec2015, Vol. 78 Issue 6, p871-886, 16p
Autor:
Nicolas, Gaël, Pottier, Cyril, Charbonnier, Camille, Guyant-Maréchal, Lucie, Le Ber, Isabelle, Pariente, Jérémie, Labauge, Pierre, Ayrignac, Xavier, Defebvre, Luc, Maltête, David, Martinaud, Olivier, Lefaucheur, Romain, Guillin, Olivier, Wallon, David, Chaumette, Boris, Rondepierre, Philippe, Derache, Nathalie, Fromager, Guillaume, Schaeffer, Stéphane, Krystkowiak, Pierre
Publikováno v:
Brain: A Journal of Neurology; Nov2013, Vol. 136 Issue 11, p3395-3407, 13p