학술논문
'학술논문'
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1~10
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
Periodical
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; March 2024, Vol. 56 Issue: 3 p395-407, 13p
Academic Journal
Toepf, 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; Boennemann, 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, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; 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
Academic Journal
Chennen, Kirsley; Weber, Thomas; Lornage, Xavière; Kress, Arnaud; Böhm, Johann; Thompson, Julie; Laporte, Jocelyn; Poch, Olivier
Academic Journal
Dotti, Maria-Teresa; Malandrini, Alessandro; Lornage, Xavière; Mignarri, Andrea; Cantisani, Teresa Anna; Bohm, Johann; Laporte, Jocelyn; Malfatti, Edoardo
In Journal of the Neurological Sciences 15 March 2018 386:1-3
Academic Journal
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca
Nature Communications; 4/28/2022, Vol. 13 Issue 1, p1-18, 18p
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; Mar2021, Vol. 22 Issue 1, p33-41, 9p
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; 12/15/2020, Vol. 95 Issue 24, pe3406-e3411, 6p
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
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
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