Zobrazeno 1 - 10
of 275
pro vyhledávání: '"Cuisset Jean-Marie"'
Autor:
Huin, Vincent, Strubi-Vuillaume, Isabelle, Dujardin, Kathy, Brion, Marine, Delliaux, Marie, Dellacherie, Delphine, Cuvellier, Jean-Christophe, Cuisset, Jean-Marie, Riquet, Audrey, Moreau, Caroline, Defebvre, Luc, Sablonniere, Bernard, Devos, David
Publikováno v:
Parkinsonism and Related Disorders, Elsevier, 45, pp.85-89 (2017)
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of
Externí odkaz:
http://arxiv.org/abs/2011.10449
Autor:
Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 96 (2012)
Abstract A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) and creatine:creatinine ratios w
Externí odkaz:
https://doaj.org/article/e2ce112ecc654a17af27c0a14d4a6252
Autor:
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 36 (2012)
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice
Externí odkaz:
https://doaj.org/article/087d644d8f86460eaea591f66aa8fc22
Akademický článek
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Autor:
Béghin, Laurent, Coopman, Stéphanie, Schiff, Manuel, Vamecq, Joseph, Mention-Mulliez, Karine, Hankard, Régis, Cuisset, Jean-Marie, Ogier, Hélène, Gottrand, Frédéric, Dobbelaere, Dries
Publikováno v:
In Clinical Nutrition December 2016 35(6):1414-1422
Autor:
Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., McDonald, Craig M., Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S.M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M. *
Publikováno v:
In Neuromuscular Disorders August 2016 26(8):473-480
Autor:
Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude
Publikováno v:
BMC Pediatrics; 11/15/2023, Vol. 23 Issue 1, p1-11, 11p
Autor:
Buyse, Gunnar M, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S M, D'Angelo, M Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S, Goemans, Nathalie, McDonald, Craig M, Rummey, Christian, Meier, Thomas
Publikováno v:
In The Lancet 2-8 May 2015 385(9979):1748-1757
Autor:
Vanlerberghe, Clémence, Petit, Florence, Malan, Valérie, Vincent-Delorme, Catherine, Bouquillon, Sonia, Boute, Odile, Holder-Espinasse, Muriel, Delobel, Bruno, Duban, Bénédicte, Vallee, Louis, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Vantyghem, Marie-Christine, Pigeyre, Marie, Lanco-Dosen, Sandrine, Plessis, Ghislaine, Gerard, Marion, Decamp, Matthieu, Mathieu, Michèle, Morin, Gilles, Jedraszak, Guillaume, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Fauvert, Delphine, Roume, Joëlle, Cormier-Daire, Valérie, Caumes, Roseline, Puechberty, Jacques, Genevieve, David, Sarda, Pierre, Pinson, Lucie, Blanchet, Patricia, Lemeur, Nathalie, Sheth, Frenny, Manouvrier-Hanu, Sylvie, Andrieux, Joris
Publikováno v:
In European Journal of Medical Genetics March 2015 58(3):140-147
Autor:
Petit, Florence, Plessis, Ghislaine, Decamp, Matthieu, Cuisset, Jean-Marie, Blyth, Moira, Pendlebury, Maria, Andrieux, Joris
Publikováno v:
In European Journal of Medical Genetics January 2015 58(1):44-46