Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anne 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:
Anne, Roubergue, Emmanuelle, Apartis, Marie, Vidailhet, Cyril, Mignot, Anna, Tullio-Pelet, Stanislas, Lyonnet, Thierry Billette, de Villemeur
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 19(3)
We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2801e973fb606d7c20c513471cfad5e5
https://pubmed.ncbi.nlm.nih.gov/15022193
https://pubmed.ncbi.nlm.nih.gov/15022193
Autor:
Eva Pipiras, Brigitte Simon-Bouy, Jean Pierre Siffroi, Anne Roubergue, Lydie Burglen, Sandra Chantot-Bastaraud, Christine Muti, Marie Claude Routon
Publikováno v:
Annales de genetique. 47(3)
Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8279d25901798661d29dd2aede58ae28
https://pubmed.ncbi.nlm.nih.gov/15337469
https://pubmed.ncbi.nlm.nih.gov/15337469