Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Portes, Vincent des"'
Autor:
Le Roux, Marie, Barth, Magalie, Gueden, Sophie, Desbordes de Cepoy, Patrick, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, de Saint Martin, Anne, Portes, Vincent des, Lesca, Gaëtan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Van Gils, Julien, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, Van Bogaert, Patrick
Publikováno v:
In European Journal of Paediatric Neurology July 2021 33:75-85
Autor:
Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine
Publikováno v:
In Genetics in Medicine November 2020 22(11):1887-1891
Akademický článek
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Autor:
Harion, Madeleine, Qebibo, Leila, Riquet, Audrey, Rougeot, Christelle, Afenjar, Alexandra, Garel, Catherine, Louha, Malek, Lacaze, Emmanuelle, Audic-Gérard, Frédérique, Barth, Magali, Berquin, Patrick, Bonneau, Dominique, Bourdain, Frédéric, Busa, Tiffany, Colin, Estelle, Cuisset, Jean-Marie, Portes, Vincent Des, Dorison, Nathalie, Francannet, Christine, Héron, Bénédicte
Publikováno v:
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p578-586, 9p
Autor:
Rougeot-jung, Christelle, Poulat, Anne Lise, Decrette, Emilie, Moreau, Pauline, Sabatier, Isabelle, Carneiro, Maryline, portes, Vincent Des
Publikováno v:
In Revue Neurologique April 2024 180 Supplement:S183-S183
Autor:
von Rotz, Lorna, Courbois, Yannick, Portes, Vincent Des, Lacroix, Agnès, Reymond, Marie-Pierre, Tassé, Marc J., Touil, Nathalie, Tsao, Raphaele, Straccia., Claudio
Publikováno v:
American Journal on Intellectual & Developmental Disabilities; Mar2023, Vol. 128 Issue 2, p176-180, 5p
Autor:
Panagiotakaki, Eleni, Tiziano, Francesco D., Mikati, Mohamad A., Vijfhuizen, Lisanne S., Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V. E., Walley, Nicole M., De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cecile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H., George, Alfred L., Gurrieri, Fiorella, van den Maagdenberg, Arn M. J. M., Heinzen, Erin L.
Publikováno v:
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-8, 8p
Autor:
Panagiotakaki, Eleni, Doummar, Diane, Nogue, Erika, Nagot, Nicolas, Lesca, Gaetan, Riant, Florence, Nicole, Sophie, Delaygue, Charlene, Barthez, Marie Anne, Nassogne, Marie Cécile, Dusser, Anne, Vallée, Louis, Billette, Thierry, Bourgeois, Marie, Ioos, Christine, Gitiaux, Cyril, Laroche, Cécile, Milh, Mathieu, Portes, Vincent Des, Arzimanoglou, Alexis, Roubertie, Agathe, AHC–Movement Disorder Study Group
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩
Neurology, Vol. 94, no.13, p. e1378-e1385 (2020)
Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩
Neurology, American Academy of Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩
Neurology, Vol. 94, no.13, p. e1378-e1385 (2020)
Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩
ObjectiveTo assess nonparoxysmal movement disorders inATP1A3mutation-positive patients with alternating hemiplegia of childhood (AHC).MethodsTwenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e69df76f0c09dc0d693bc3e7577592
https://hal.archives-ouvertes.fr/hal-02533319
https://hal.archives-ouvertes.fr/hal-02533319
Autor:
Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::59df6cff8ed144ef895c2d62f8257923
http://www.sciencedirect.com/science/article/pii/S2214426919301089
http://www.sciencedirect.com/science/article/pii/S2214426919301089