학술논문
'학술논문'
에서 검색결과 122건 | 목록
1~10
Academic Journal
Méreaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie-Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stéphane; Gobert, Florent; Guillot-Noël, Léna; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Maréchal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jérôme; Degos, Bertrand; Tison, François; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, François; Tchikviladzé, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Méneret, Aurélie; Bourdain, Frédéric; Wandzel, Marion; Roth, Virginie; Bonnet, Céline; Riant, Florence; Stevanin, Giovanni; Noël, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durr, Alexandra
In eBioMedicine January 2024 99
Academic Journal
In The Lancet Neurology August 2023 22(8):735-749
Academic Journal
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A.J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109
Academic Journal
Méreaux, Jean-Loup; Davoine, Claire-Sophie; Coutelier, Marie; Guillot-Noël, Léna; Castrioto, Anna; Charles, Perrine; Coarelli, Giulia; Ewenczyk, Claire; Klebe, Stephan; Heinzmann, Anna; Méneret, Aurélie; Fauret-Amsellem, Anne-Laure; de Sainte Agathe, Jean-Madeleine; Brice, Alexis; Durr, Alexandra
Journal of Medical Genetics; Jul2023, Vol. 60 Issue 7, p717-721, 5p
Academic Journal
Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino‐Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; Mundwiller, Emeline; Guillot‐Noël, Lena; Storey, Elsdon; Gardner, R. J. McKinlay
Academic Journal
Elsner, Jonas; Mensah, Martin A.; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie
Human Genetics. August 2021, Vol. 140 Issue 8, p1229, 11 p.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Academic Journal
Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, François; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Larivière, Roxanne; Sgarioto, Nicolas; Valter, Rémi; Guillot-Noel, Léna; Ber, Isabelle Le; Sayah, Sabrina; Charles, Perrine; Nümann, Astrid; Pauly, Martje G; Helmchen, Christoph
Academic Journal
Jessa, Selin; Mohammadnia, Abdulshakour; Harutyunyan, Ashot S.; Hulswit, Maud; Varadharajan, Srinidhi; Lakkis, Hussein; Kabir, Nisha; Bashardanesh, Zahedeh; Hébert, Steven; Faury, Damien; Vladoiu, Maria C.; Worme, Samantha; Coutelier, Marie; Krug, Brian; Faria Andrade, Augusto; Pathania, Manav; Bajic, Andrea; Weil, Alexander G.; Ellezam, Benjamin; Atkinson, Jeffrey; Dudley, Roy W. R.; Farmer, Jean-Pierre; Perreault, Sebastien; Garcia, Benjamin A.; Larouche, Valérie; Blanchette, Mathieu; Garzia, Livia; Bhaduri, Aparna; Ligon, Keith L.; Bandopadhayay, Pratiti; Taylor, Michael D.; Mack, Stephen C.; Jabado, Nada; Kleinman, Claudia L.
Nature Genetics. 54(12):1865-1880
Periodical
Coutelier, Marie; Holtgrewe, Manuel; Jäger, Marten; Flöttman, Ricarda; Mensah, Martin A.; Spielmann, Malte; Krawitz, Peter; Horn, Denise; Beule, Dieter; Mundlos, Stefan
European Journal of Human Genetics: EJHG; February 2022, Vol. 30 Issue: 2 p178-186, 9p
Academic Journal
Jessa, Selin; Blanchet-Cohen, Alexis; Krug, Brian; Vladoiu, Maria; Coutelier, Marie; Faury, Damien; Poreau, Brice
Nature Genetics. December 2019, Vol. 51 Issue 12, p1702, 12 p.
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[AR] Coutelier, Marie
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