日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1

心电图与电生理检查及强直性肌营养不良1型患者的主要传导延迟

Clementy, Nicolas; Labombarda, Fabien; Grolleau, François; Algalarrondo, Vincent; Bassez, Guillaume; Bécane, Henri-Marc; Béhin, Anthony; Chapon, Françoise; El Hachmi, Mohamed; Fayssoil, Abdallah; Fontaine, Bertrand; Garcia, Rodrigue; Laforêt, Pascal; Lazarus, Arnaud; Masingue, Marion; Magot, Armelle; Pereon, Yann; Probst, Vincent; Motté, Leslie; Saadi, Malika; Duboc, Denis; Stojkovic, Tanya; Porcher, Raphaël; Wahbi, Karim

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

MYH7相关肌病:法国多中心队列研究中的临床、肌病理学和基因型谱

Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Françoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Féasson, Léonard; Jacquin-Piques, Agnès; Richard, Pascale; Métay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforêt, Pascal; Acket, Blandine; Behin, Anthony; Fernández-Eulate, Gorka; Léonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocío Nur

Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey

神经肌肉疾病患者从儿童期到成年期的过渡:ERN EURO-NMD调查结果

Evangelista, Teresinha; Ali, Houda; Handberg, Charlotte; Sejersen, Thomas; Quinlivan, Ros; Moroni, Isabella; Masingue, Marion; Quijano-Roy, Susana; Atalaia, Antonio; Schara-Schmidt, Ulrike; Claeys, Kristl G

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

成人先天性重症肌无力综合征:临床特征、诊断和长期预后

Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frédéric; Pegat, Antoine; Bouhour, Françoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Véronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanché, Jean-Philippe; Tard, Céline; Magot, Armelle; Péréon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Solé, Guilhem; Spinazzi, Marco; Esselin, Florence; Renard, Dimitri; Sacconi, Sabrina; Ezaru, Andra; Malfatti, Edoardo; Mallaret, Martial; Magy, Laurent; Diab, Eva; Merle, Philippe; Michaud, Maud; Fournier, Maxime; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Lefeuvre, Claire; Laforet, Pascal; Richard, Pascale; Sternberg, Damien; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Eymard, Bruno

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

法国人群中非5q近端脊髓性肌萎缩症的基因特征分析:全外显子组测序的作用

Theuriet, Julian; Fernandez-Eulate, Gorka; Latour, Philippe; Stojkovic, Tanya; Masingue, Marion; Vidoni, Léo; Bernard, Emilien; Jacquier, Arnaud; Schaeffer, Laurent; Salort-Campana, Emmanuelle; Chanson, Jean-Baptiste; Pakleza, Aleksandra Nadaj; Kaminsky, Anne-Laure; Svahn, Juliette; Manel, Véronique; Bouhour, Françoise; Pegat, Antoine

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

多学科团队会议在脊髓性肌萎缩症成人患者治疗中的应用:创新疗法的真实案例观察

Salort-Campana, Emmanuelle; Solé, Guilhem; Magot, Armelle; Tard, Céline; Noury, Jean-Baptiste; Behin, Anthony; De La Cruz, Elisa; Boyer, François; Lefeuvre, Claire; Masingue, Marion; Debergé, Louise; Finet, Armelle; Brison, Mélanie; Spinazzi, Marco; Pegat, Antoine; Sacconi, Sabrina; Malfatti, Edoardo; Choumert, Ariane; Bellance, Rémi; Bedat-Millet, Anne-Laure; Feasson, Léonard; Vuillerot, Carole; Jacquin-Piques, Agnès; Michaud, Maud; Pereon, Yann; Stojkovic, Tanya; Laforêt, Pascal; Attarian, Shahram; Cintas, Pascal

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

SpliceAI-visual:一款免费的在线工具,用于改进 SpliceAI 剪接变异解读。

de Sainte Agathe, Jean-Madeleine; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurélien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossée, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Élodie; Le Guern, Éric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Françoise; Cogné, Benjamin; Baux, David

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome

LRP4 β1 螺旋桨结构域的新突变导致与 Cenani-Lenz 综合征相关的先天性肌无力综合征

Marion Masingue #, Olivia Cattaneo #, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

非5q脊髓性肌萎缩症的表型表现和分子诊断率

Fernández-Eulate, Gorka; Theuriet, Julian; Record, Christopher J; Querin, Giorgia; Masingue, Marion; Leonard-Louis, Sarah; Behin, Anthony; Le Forestier, Nadine; Pegat, Antoine; Michaud, Maud; Chanson, Jean-Baptiste; Nadaj-Pakleza, Aleksandra; Tard, Celine; Bedat-Millet, Anne-Laure; Sole, Guilhem; Spinazzi, Marco; Salort-Campana, Emmanuelle; Echaniz-Laguna, Andoni; Poinsignon, Vianney; Latour, Philippe; Reilly, Mary M; Bouhour, Francoise; Stojkovic, Tanya