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Xavière Lornage

Université de Strasbourg
H指数:18
被引数:902

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Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy

49例与肌联蛋白相关先天性肌病患者群体的临床、组织学和遗传学特征

Human Mutation
IF3.7
2026-09-060
OAAI
Yvan de Feraudy; Anthony Maino; Morgane Boedec; Xavière Lornage; Norma B. Romero; Soledad Monges; Fabiana Lubieniecki; Marίa Eugenia Foncuberta; Celine Tard; Claude-Alain Maurage; Marie Csanyi; Pascale Marcorelles; Tanya Stojkovic; Leonard Feasson; Mélanie Fradin; Gaelle Gousse; Vincent Laugel; Marion Masingue; Aleksandra Nadaj-Pakleza; Jorge Alfredo Bevilacqua; NEB study group; John Rendu; Johann Bohm; Valérie Biancalana; Jocelyn Laporte
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1

MBNL耗竭驱动肌萎缩侧索硬化症1型中的干细胞融合和不成熟肌核状态

Nature Communications
IF15.7
2026-08-060
OA
Vanessa Todorow; Xavière Lornage; Shinichiro Hayashi; Fiorella Carla Grandi; Zoé Clerc; Jeanne Lainé; Michel Ney; Mégane Lemaitre; Corentin Rouxel; Maria Kondili; Piera Smeriglio; Hanseul Oh; Mie Kato; Nobuyuki Eura; Yoshihiko Saito; Francia Victoria A. De Los Reyes; Satoru Noguchi; Benedikt Schoser; Denis Furling; Ichizo Nishino; Peter Meinke; Frédérique Rau
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
NATURE GENETICS
IF31.8
2024-03-017
OAAI
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
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
NATURE COMMUNICATIONS
IF15.7
2022-04-2824
OAAI
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; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-12-0130
OAAI
Donkervoort, Sandra; Kutzner, Carl E.; Hu, Ying; Lornage, Xaviere; Rendu, John; Stojkovic, Tanya; Baets, Jonathan; Neuhaus, Sarah B.; Tanboon, Jantima; Maroofian, Reza; Bolduc, Veronique; Mroczek, Magdalena; Conijn, Stefan; Kuntz, Nancy L.; Topf, Ana; Monges, Soledad; Lubieniecki, Fabiana; McCarty, Riley M.; Chao, Katherine R.; Governali, Serena; Bohm, 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; Faure, 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; Boennemann, Carsten G.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
ANNALS OF NEUROLOGY
IF7.7
2019-12-2712
OAAI
Villar-Quiles, Rocio N.; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie A.; Gidaro, Teresa; Koparir, Asuman; Yuksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xaviere; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B.; Beggs, Alan H.; Servais, Laurent; Cossee, Mireille; Olive, Montse; Bohm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana
ACTN2 mutations cause Multiple structured Core Disease (MsCD)
ACTA NEUROPATHOLOGICA
IF9.3
2019-01-3028
OAAI
Lornage, Xaviere; Romero, Norma B.; Grosgogeat, Claire A.; Malfatti, Edoardo; Donkervoort, Sandra; Marchetti, Michael M.; Neuhaus, Sarah B.; Foley, A. Reghan; Labasse, Clemence; Schneider, Raphael; Carlier, Robert Y.; Chao, Katherine R.; Medne, Livija; Deleuze, Jean-Francois; Orlikowski, David; Bonnemann, Carsten G.; Gupta, Vandana A.; Fardeau, Michel; Bohm, Johann; Laporte, Jocelyn
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
IF3
2018-10-2523
OAAI
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
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

MTM1突变的女性携带者表现出广泛的临床和病理参与: 描绘诊断线索

ACTA NEUROPATHOLOGICA
IF9.3
2017-07-0644
PREAI
Biancalana, Valerie; Scheidecker, Sophie; Miguet, Marguerite; Laquerriere, Annie; Romero, Norma B.; Stojkovic, Tanya; Neto, Osorio Abath; Mercier, Sandra; Voermans, Nicol; Tanner, Laura; Rogers, Curtis; Ollagnon-Roman, Elisabeth; Roper, Helen; Boutte, Celia; Ben-Shachar, Shay; Lornage, Xaviere; Vasli, Nasim; Schaefer, Elise; Laforet, Pascal; Pouget, Jean; Moerman, Alexandre; Pasquier, Laurent; Marcorelle, Pascale; Magot, Armelle; Kusters, Benno; Streichenberger, Nathalie; Tranchant, Christine; Dondaine, Nicolas; Schneider, Raphael; Gasnier, Claire; Calmels, Nadege; Kremer, Valerie; Nguyen, Karine; Perrier, Julie; Kamsteeg, Erik Jan; Carlier, Pierre; Carlier, Robert-Yves; Thompson, Julie; Boland, Anne; Deleuze, Jean-Francois; Fardeau, Michel; Zanoteli, Edmar; Eymard, Bruno; Laporte, Jocelyn
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
ACTA NEUROPATHOLOGICA
IF9.3
2016-12-2379
PREAI
Schartner, Vanessa; Romero, Norma B.; Donkervoort, Sandra; Treves, Susan; Munot, Pinki; Pierson, Tyler Mark; Dabaj, Ivana; Malfatti, Edoardo; Zaharieva, Irina T.; Zorzato, Francesco; Neto, Osorio Abath; Brochier, Guy; Lornage, Xaviere; Eymard, Bruno; Taratuto, Ana Lia; Boehm, Johann; Gonorazky, Hernan; Ramos-Platt, Leigh; Feng, Lucy; Phadke, Rahul; Bharucha-Goebel, Diana X.; Sumner, Charlotte Jane; Bui, Mai Thao; Lacene, Emmanuelle; Beuvin, Maud; Labasse, Clemence; Dondaine, Nicolas; Schneider, Raphael; Thompson, Julie; Boland, Anne; Deleuze, Jean-Francois; Matthews, Emma; Pakleza, Aleksandra Nadaj; Sewry, Caroline A.; Biancalana, Valerie; Quijano-Roy, Susana; Muntoni, Francesco; Fardeau, Michel; Boennemann, Carsten G.; Laporte, Jocelyn

研究方向

暂未获取到该数据
J
Jocelyn Laporte
H 指数:70论文数:493被引数:2.7万
J
Johann Böhm
H 指数:34论文数:191被引数:3,244
N
Norma B. Romero
H 指数:34论文数:117被引数:3,672
J
Johann Böhm
H 指数:0论文数:3被引数:8
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万
N
Norma B. Romero
H 指数:64论文数:364被引数:1.4万
S
Sandra Donkervoort
H 指数:46论文数:312被引数:9,215
E
Edoardo Malfatti
H 指数:12论文数:43被引数:623
R
Raphaël Schneider
H 指数:62论文数:513被引数:1.4万
I
Ichizo Nishino
H 指数:87论文数:1,190被引数:4.3万