Zobrazeno 1 - 10
of 159
pro vyhledávání: '"A. Roubergue"'
Autor:
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Abstract Background Based on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations. Methods We conducted a
Externí odkaz:
https://doaj.org/article/a99b74495ac847fd9ca2c7591eb1311f
Autor:
Hully, Marie, Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Boddaert, Nathalie, Kaminska, Anna, Lascelles, Karine, de Lonlay, Pascale, Cances, Claude, des Portes, Vincent, Roubertie, Agathe, Doummar, Diane, LeBihannic, Anne, Degos, Bertrand, de Saint Martin, Anne, Flori, Elisabeth, Pedespan, Jean Michel, Goldenberg, Alice, Vanhulle, Catherine, Bekri, Soumeya, Roubergue, Anne, Heron, Bénédicte, Cournelle, Marie-Anne, Kuster, Alice, Chenouard, Alexis, Loiseau, Marie-Noelle, Valayannopoulos, Vassili, Chemaly, Nicole, Gitiaux, Cyril, Seta, Nathalie, Bahi-Buisson, Nadia
Publikováno v:
In European Journal of Medical Genetics September 2015 58(9):443-454
Autor:
Doummar, D., Roussat, B., Pelosse, B., Le Pointe, H.Ducou, Iba-Zizen, M., Roubergue, A., Rodriguez, D., de Villemeur, T.Billette
Publikováno v:
In Archives de pédiatrie 2004 11(11):1384-1388
Autor:
Chantot-Bastaraud, Sandra, Muti, Christine, Pipiras, Eva, Routon, Marie Claude, Roubergue, Anne, Burglen, Lydie, Siffroi, Jean Pierre *, Simon-Bouy, Brigitte
Publikováno v:
In Annales de genetique 2004 47(3):241-249
Publikováno v:
In Archives de pédiatrie 2002 9(1):79-87
Autor:
Nathalie Dorison, Marion Gérard, Bernard Echenne, Gaetan Lesca, Maria Virginia Soldovieri, A Roubergue, Bénédicte Héron, Alain Calender, Audrey Riquet, Francesco Miceli, Julie Oertel, Mathieu Milh, Paolo Ambrosino, Diane Doummar, Stéphane Auvin, Maurizio Taglialatela, Cyril Mignot, Laetitia Lambert, Michela De Maria, Nadia Boutry-Kryza, Emilie Bourel
Publikováno v:
Human Mutation. 35:356-367
Mutations in the KCNQ2 and KCNQ3 genes encoding for Kv 7.2 (KCNQ2; Q2) and Kv 7.3 (KCNQ3; Q3) voltage-dependent K(+) channel subunits, respectively, cause neonatal epilepsies with wide phenotypic heterogeneity. In addition to benign familial neonatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2612b687f9f61bc507296e53b93155
https://doi.org/10.1002/humu.22500
https://doi.org/10.1002/humu.22500
Autor:
A. Roubergue, J. Milosevic, J.M. Dupont, Aurélie Coussement, L. El Khattabi, L. Cuisset, D. Doummar, Géraldine Viot, B. Flageul, D. Le Tessier, Aziza Lebbar
Publikováno v:
American Journal of Medical Genetics Part A. 164:3180-3186
Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938234d4e30ae395870ff1dc108d0692
https://doi.org/10.1002/ajmg.a.36777
https://doi.org/10.1002/ajmg.a.36777
Autor:
Diane Doummar, Valérie Mesnage, Sandrine Vuillaumier-Barrot, Thierry Billette de Villemeur, A Roubergue, Jean-Marc Trocello, Richard Levy, Marie Vidailhet, Guillaume Taieb, Emmanuelle Apartis, Emmanuel Roze
Publikováno v:
Journal of Inherited Metabolic Disease. 34:483-488
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is due to heterozygous mutation of the glucose transporter type 1 gene (GLUT1/SLC2A1). GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2755cb211aa74544418e0d7496dd6cab
https://doi.org/10.1007/s10545-010-9264-6
https://doi.org/10.1007/s10545-010-9264-6
Autor:
A Roubergue, Mariana Atencio, Marta Ruiz, Aurélie Méneret, Vanessa Brochard, Maryvonne Retail, Samantha Caillet, Sandrine Leroy, Jean-Christophe Corvol, Emmanuel Roze, Elodie Hainque, Florence Habarou, Isaac Adanyeguh, Sophie Rivaud-Péchoux, Benjamin Le Toullec, Chris Ottolenghi, Constance Flamand-Roze, Fanny Mochel, Mohamed Doulazmi, Fanny Charbonnier-Beaupel, Marie Vidailhet, Florence Cormier
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2016, 12 (1), pp.160. 〈10.1186/s13023-017-0713-2〉
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2016, 12 (1), pp.160. 〈10.1186/s13023-017-0713-2〉
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
International audience; AbstractBackgroundBased on the hypothesis of a brain energy deficit, we investigated the safety and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations.M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f94fdc289e775fbac7bc7049087f74
https://www.hal.inserm.fr/inserm-01612741/document
https://www.hal.inserm.fr/inserm-01612741/document
Autor:
Alexis Chenouard, Nathalie Seta, Nadia Bahi-Buisson, Marie-Anne Cournelle, Soumeya Bekri, Karine Lascelles, Anne de Saint Martin, Marie-Noelle Loiseau, Marie Hully, Nicole Chemaly, Bertrand Degos, Vassili Valayannopoulos, Claude Cances, Christiane Le Bizec, Anne LeBihannic, A Roubergue, Sandrine Vuillaumier-Barrot, Diane Doummar, Anna Kaminska, Vincent des Portes, Bénédicte Héron, Pascale de Lonlay, Alice Kuster, Alice Goldenberg, Jean Michel Pedespan, Elisabeth Flori, Catherine Vanhulle, Agathe Roubertie, Cyril Gitiaux, Nathalie Boddaert
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2015, 58 (9), pp.443-54. ⟨10.1016/j.ejmg.2015.06.007⟩
European Journal of Medical Genetics, Elsevier, 2015, 58 (9), pp.443-54. ⟨10.1016/j.ejmg.2015.06.007⟩
International audience; Introduction Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The classic phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e46a8dc25ae0381587ad2ae8fc7d73
https://pubmed.ncbi.nlm.nih.gov/26193382
https://pubmed.ncbi.nlm.nih.gov/26193382