Ngā hua rapu - Mathilde Mairey

  • E whakaatu ana i te 1 - 4 hua o te 4
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  1. 1
    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias mā Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Carneiro Ribeiro, José L. Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stévanin

    I whakaputaina 2017
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    Artigo
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  2. 2
    Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

    Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis mā Elisa Teyssou, Laura Chartier, Maria del Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stévanin, Stéphanie Millecamps

    I whakaputaina 2017
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    Artigo
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  3. 3
    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia mā Marie Coutelier, Cyril Goizet, Alexandra Dürr, Florence Habarou, Sara Morais, Alexandre Dionne‐Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schüle, Maxime Janin, Fanny Morice‐Picard, Christelle Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy A. Rouleau, Alexis Brice, Garth A. Nicholson, Frédéric Darios, José L. Loureiro, Stephan Züchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stévanin

    I whakaputaina 2015
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  4. 4
    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia mā Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin

    I whakaputaina 2021
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    Artigo
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