학술논문
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'학술논문'
에서 검색결과 136건 | 목록
1~20
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Academic Journal
Donkervoort, Sandra ; Kutzner, Carl E. ; Hu, Ying ; Lornage, Xavière ; Rendu, John ; Stojkovic, Tanya ; Baets, Jonathan ; Neuhaus, Sarah B. ; Tanboon, Jantima ; Maroofian, Reza ; Bolduc, Véronique ; Mroczek, Magdalena ; Conijn, Stefan ; Kuntz, Nancy L. ; Töpf, Ana ; Monges, Soledad ; Lubieniecki, Fabiana ; McCarty, Riley M. ; Chao, Katherine R. ; Governali, Serena ; Böhm, Johann ; Boonyapisit, Kanokwan ; Malfatti, Edoardo ; Sangruchi, Tumtip ; Horkayne-Szakaly, Iren ; Hedberg-Oldfors, Carola ; Efthymiou, Stephanie ; Noguchi, Satoru ; Djeddi, Sarah ; Iida, Aritoshi ; di Rosa, Gabriella ; Fiorillo, Chiara ; Salpietro, Vincenzo ; Darin, Niklas ; Fauré, Julien ; Houlden, Henry ; Oldfors, Anders ; Nishino, Ichizo ; de Ridder, Willem ; Straub, Volker ; Pokrzywa, Wojciech ; Laporte, Jocelyn ; Foley, A. Reghan ; Romero, Norma B. ; Ottenheijm, Coen ; Hoppe, Thorsten ; Bönnemann, Carsten G.
In The American Journal of Human Genetics 3 December 2020 107(6):1078-1095
Academic Journal
Frison-Roche, Charles; Demier, Celia Martin; Cottin, Steve; Laine, Jeanne; Arandel, Ludovic; Halliez, Marius; Lemaitre, Megane; Lornage, Xaviere; Strochlic, Laure; Swanson, Maurice S.; Martinat, Cecile; Messeant, Julien; Furling, Denis; Rau, Frederique
Academic Journal
Evangelista, Teresinha; Lornage, Xaviere; Carlier, Pierre G.; Bassez, Guillaume; Brochier, GuyvChanut, Anais; Lacene, Emmanuelle; Bui, Mai-Thao; Metay, Corinne; Oppermann, Ursula; Bohm, Johann; Laporte, Jocelyn; Romero, Norma B.
Journal of Neuropathology and Experimental Neurology. August, 2020, Vol. 79 Issue 8, p908, 7 p.
Academic Journal
Lornage, Xavière; Mallaret, Martial; Silva-Rojas, Roberto; Biancalana, Valérie; Giovannini, Diane; Dieterich, Klaus; Saker, Safaa; Deleuze, Jean-François; Wuyam, Bernard; Laporte, Jocelyn; Böhm, Johann
neurogenetics. :1-9
Academic Journal
Xavière Lornage; Vanessa Schartner; Inès Balbueno; Valérie Biancalana; Tracey Willis; Andoni Echaniz-Laguna; Sophie Scheidecker; Ros Quinlivan; Michel Fardeau; Edoardo Malfatti; Béatrice Lannes; Caroline Sewry; Norma B. Romero; Jocelyn Laporte; Johann Böhm
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-10 (2019)
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F Lucy Raymond; Tobias Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; J. Paul Taylor; Carsten G. Bönnemann
Academic Journal
Lornage, Xavière; Romero, Norma B.; Grosgogeat, Claire A.; Malfatti, Edoardo; Donkervoort, Sandra; Marchetti, Michael M.; Neuhaus, Sarah B.
Acta Neuropathologica. March, 2019, Vol. 137 Issue 3, p501, 19 p.
Academic Journal
Abath Neto, Osorio ; Moreno, Cristiane de Araújo Martins ; Malfatti, Edoardo ; Donkervoort, Sandra ; Böhm, Johann ; Guimarães, Júlio Brandão ; Foley, A. Reghan ; Mohassel, Payam ; Dastgir, Jahannaz ; Bharucha-Goebel, Diana Xerxes ; Monges, Soledad ; Lubieniecki, Fabiana ; Collins, James ; Medne, Līvija ; Santi, Mariarita ; Yum, Sabrina ; Banwell, Brenda ; Salort-Campana, Emmanuelle ; Rendu, John ; Fauré, Julien ; Yis, Uluc ; Eymard, Bruno ; Cheraud, Chrystel ; Schneider, Raphaël ; Thompson, Julie ; Lornage, Xaviere ; Mesrob, Lilia ; Lechner, Doris ; Boland, Anne ; Deleuze, Jean-François ; Reed, Umbertina Conti ; Oliveira, Acary Souza Bulle ; Biancalana, Valérie ; Romero, Norma B. ; Bönnemann, Carsten G. ; Laporte, Jocelyn ; Zanoteli, Edmar
In Neuromuscular Disorders November 2017 27(11):975-985
Academic Journal
Berardo, Andrés; Lornage, Xavière; Johari, Mridul; Evangelista, Teresinha; Cejas, Claudia; Barroso, Fabio; Dubrovsky, Alberto; Bui, Mai Thao; Brochier, Guy; Saccoliti, Maria; Bohm, Johann; Udd, Bjarne; Laporte, Jocelyn; Romero, Norma Beatriz; Taratuto, Ana Lia
Journal of Neurology. 266(10):2524-2534
Academic Journal
Ana Topf; Irina Zaharieva; Valeria Di Leo; Anna Vihola; Neha Wali; Marco Savarese; Kristen Laricchia; Cristina Venturini; Bas Vroling; Beryl Cummings; Rita Barresi; Elizabeth Harris; Chiara Marini Bettolo; Dan Cox; Jennifer Duff; Eleina England; Jane Patrick; Valerie Biancalana; Shobhana Bommireddipalli; Carsten Bonnemann; Anita Cairns; Mei Chiew; Kristl G. Claeys; Sandra Cooper; Mark R. Davis; Sandra Donkervoort; Corrie E. Erasmus; Carla Grosmann; Heinz Jungbluth; Erik-Jan Kamsteeg; Xaviere Lornage; Wolfgang Löscher; Edoardo Malfatti; Adnan Manzur; Pilar Marti; Tiziana Mongini; Nuria Muelas; Atsuko Nishikawa; Narumi Ogonuki; Gina O'Grady; Stephanie Paquay; Rahul Phadke; Beth Pletcher; Norma Romero; Meyke Schouten; Snehal Shah; Yves Sznajer; Giorgio Tasca; Allysa Tuite; Peter van den Bergh; Nicol Voermans; Julia Wanschitz; Elizabeth Wraige; Kimihiko Yoshimura; Emily Oates; Osamu Nakagawa; Ichizo Nishino; Jocelyn Laporte; Juan Vilchez; Daniel Macarthur; Anna Sarkozy; Bjarne Udd; Elisabeth Busch-Nentwich; Francesco Muntoni; Volker Straub
SSRN Electronic Journal.
Academic Journal
Lornage, Xavière; Quijano-Roy, Susana; Amthor, Helge; Carlier, Robert-Yves; Monnier, Nicole; Deleuze, Jean-François; Romero, Norma B.; Laporte, Jocelyn; Böhm, Johann
Neurology. Dec 15, 2020 95(24):e3406-e3411
Academic Journal
Avila-Polo, Rainiero; Malfatti, Edoardo; Lornage, Xaviere; Cheraud, Chrystel; Nelson, Isabelle; Nectoux, Juliette; Bohm, Johann; Schneider, Raphael; Hedberg-Oldfors, Carola; Eymard, Bruno; Monges, Soledad; Lubieniecki, Fabiana; Brochier, Guy; Bui, Mai Thao; Madelaine, Angeline; Labasse, Clemence; Beuvin, Maud; Lacene, Emmanuelle; Boland, Anne; Deleuze, Jean-Francois; Thompson, Julie; Richard, Isabelle; Taratuto, Ana Lia; Udd, Bjarne; Leturcq, France; Bonne, Gisele; Oldfors, Anders; Laporte, Jocelyn; Romero, Norma Beatriz
Journal of Neuropathology and Experimental Neurology. December, 2018, Vol. 77 Issue 12, p1101, 14 p.
Academic Journal
Academic Journal
Kirsley Chennen; Thomas Weber; Xavière Lornage; Arnaud Kress; Johann Böhm; Julie Thompson; Jocelyn Laporte; Olivier Poch
PLoS ONE, Vol 15, Iss 7, p e0236962 (2020)
Academic Journal
Dotti, Maria-Teresa; Malandrini, Alessandro; Lornage, Xavière; Mignarri, Andrea; Cantisani, Teresa Anna; Bohm, Johann; Laporte, Jocelyn; Malfatti, Edoardo
Journal of the Neurological Sciences. 386:1-3
Academic Journal
Echaniz-Laguna, Andoni; Lornage, Xaviére; Laforêt, Pascal; Orngreen, Mette Cathrine; Edelweiss, Evelina F.; Brochier, Guy; Bui, Mai Thao; Silva-Rojas, Roberto; Birck, Catherine; Lannes, Béatrice; Romero, Norma Beatriz; Vissing, John; Laporte, Jocelyn; Böhm, Johann
Annals of Neurology. 88:274-282
Academic Journal
Villar‐quiles, Rocío; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce‐hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma; Beggs, Alan; Servais, Laurent; Cossée, Mireille; Olivé, Montse; Böhm, Johann; Duband‐goulet, Isabelle; Ferreiro, Ana
Annals of neurology, 87 (2
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