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

Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome

对吉兰-巴雷综合征患者体内针对糖脂的抗体反应性进行大规模分析

Thomma, Robin C M; Halstead, Susan K; de Koning, Laura C; Wiegers, Eveline J A; Gourlay, Dawn S; Tio-Gillen, Anne P; van Rijs, Wouter; Andersen, Henning; Antonini, Giovanni; Arends, Samuel; Attarian, Shahram; Barroso, Fabio A; Bateman, Kathleen J; Benedetti, Luana; Van den Bergh, Peter; Bürmann, Jan; Busby, Mark; Casasnovas, Carlos; Dardiotis, Efthimios; Davidson, Amy; Feasby, Thomas E; Fehmi, Janev; Galassi, Giuliana; Garcia-Sobrino, Tania; Granit, Volkan; Gutiérrez-Gutiérrez, Gerardo; Hadden, Robert D M; Harbo, Thomas; Hartung, Hans-Peter; Hasan, Imran; Holt, James K L; Islam, Zhahirul; Karafiath, Summer; Katzberg, Hans D; Kolb, Noah; Kusunoki, Susumu; Kuwabara, Satoshi; Kuwahara, Motoi; Lehmann, Helmar C; Leonhard, Sonja E; Martín-Aguilar, Lorena; Monges, Soledad; Nobile-Orazio, Eduardo; Pardo, Julio; Pereon, Yann; Querol, Luis; Reisin, Ricardo C; Rinaldi, Simon; Ripellino, Paolo; Roberts, Rhys C; Scheidegger, Olivier; Shahrizaila, Nortina; Sheikh, Kazim A; Silvestri, Nicholas J; Sindrup, Soren H; Stein, Beth; Tan, Cheng Y; Tankisi, Hatice; Visser, Leo H; Waheed, Waqar; Huizinga, Ruth; Jacobs, Bart C; Willison, Hugh J

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

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境和迷茫:来自法国国家罕见神经肌肉疾病网络(FILNEMUS)和法国国家罕见病数据库(BNDMR)的患者特征见解

Dumas, Rémy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Céline; Sacconi, Sabrina; Bouhour, Françoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Léonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cécile; Cintas, Pascal; Stojkovic, Tanya; Solé, Guilhem; Attarian, Shahram

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy

全国范围内对103例SH3TC2基因相关脱髓鞘性周围神经病患者进行表型和基因型特征分析

Jaubert, Pauline; Loret, Camille; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie; Bouhour, Françoise; Camdessanche, Jean-Philippe; Cassereau, Julien; Chanson, Jean-Baptiste; Cintas, Pascal; Creange, Alain; Esselin, Florence; Genestet, Steeve; Giordano, Sophie; Gitiaux, Cyril; Guillaud-Bataille, Marine; Isapof, Arnaud; Kumaran, Deiva; Labeyrie, Céline; Laugel, Vincent; Leonard-Louis, Sarah; Lozeron, Pierre; Magy, Laurent; Mercier, Sandra; Merle, Philippe; Michaud, Maud; Nicolas, Guillaume; Ollagnon, Elisabeth; Pereon, Yann; Puma, Angela; Poinsignon, Vianney; Roy, Susana Quijano; Sole, Guilhem; Tard, Céline; Vidoni, Léo; Lia, Anne-Sophie; Echaniz-Laguna, Andoni

Electrodiagnostic subtyping in Guillain-Barré syndrome patients in the International Guillain-Barré Outcome Study

国际吉兰-巴雷综合征预后研究中吉兰-巴雷综合征患者的电诊断亚型

Arends, Samuel; Drenthen, Judith; de Koning, Laura; van den Bergh, Peter; Hadden, Robert D M; Kuwabara, Satoshi; Reisin, Ricardo C; Shahrizaila, Nortina; Ajroud-Driss, Senda; Antonini, Giovanni; Attarian, Shahram; Balducci, Claudia; Bertorini, Tulio; Brannagan, Thomas H; Cavaletti, Guido; Chao, Chi-Chao; Chavada, Govind; Dillmann, Klaus-Ulrich; Dimachkie, Mazen M; Galassi, Giuliana; Gutiérrez-Gutiérrez, Gerardo; Harbo, Thomas; Islam, Badrul; Islam, Zhahirul; Katzberg, Hans; Kusunoki, Susumu; Manganelli, Fiore; Miller, James A L; Pardo, Julio; Pereon, Yann; Rajabally, Yusuf A; Sindrup, Soren; Stettner, Mark; Uncini, Antonino; Verhamme, Camiel; Vytopil, Michal; Waheed, Waqar; Jacobs, Bart C; Cornblath, David R

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

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies

改善法国转甲状腺素蛋白淀粉样变性基因检测途径:挑战与策略

Hebrard, Bérénice; Babonneau, Marie-Lise; Charron, Philippe; Consolino, Emilie; Dauriat, Benjamin; Dupin-Deguine, Delphine; Fargeaud, Dominique; Farrugia, Agnès; Giguet-Valard, Anna-Gaëlle; Guijarro, Damien; Inamo, Jocelyn; Jeanneteau, Julien; Mazzella, Jean-Michaël; Michon, Claire-Cécile; Millat, Gilles; Mouquet, Frédéric; Oghina, Silvia; Pereon, Yann; Poinsignon, Vianney; Pompougnac, Julie; Proukhnitzky, Julie; Schaefer, Elise; Sturtz, Franck; Trosdorf, Mathilde; Auguste, Anne; Canali, Giorgia; Combes, Alexandre; Funalot, Benoît; Damy, Thibaud

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

由RFC1重复扩增引起的共济失调、神经病变、前庭反射消失综合征

Cortese, Andrea; Tozza, Stefano; Yau, Wai Yan; Rossi, Salvatore; Beecroft, Sarah J; Jaunmuktane, Zane; Dyer, Zoe; Ravenscroft, Gianina; Lamont, Phillipa J; Mossman, Stuart; Chancellor, Andrew; Maisonobe, Thierry; Pereon, Yann; Cauquil, Cecile; Colnaghi, Silvia; Mallucci, Giulia; Curro, Riccardo; Tomaselli, Pedro J; Thomas-Black, Gilbert; Sullivan, Roisin; Efthymiou, Stephanie; Rossor, Alexander M; Laurá, Matilde; Pipis, Menelaos; Horga, Alejandro; Polke, James; Kaski, Diego; Horvath, Rita; Chinnery, Patrick F; Marques, Wilson; Tassorelli, Cristina; Devigili, Grazia; Leonardis, Lea; Wood, Nick W; Bronstein, Adolfo; Giunti, Paola; Züchner, Stephan; Stojkovic, Tanya; Laing, Nigel; Roxburgh, Richard H; Houlden, Henry; Reilly, Mary M

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

法国罕见神经肌肉疾病医疗保健网络针对 COVID-19 大流行期间神经肌肉疾病患者的护理提供的指导

Solé, G; Salort-Campana, E; Pereon, Y; Stojkovic, T; Wahbi, K; Cintas, P; Adams, D; Laforet, P; Tiffreau, V; Desguerre, I; Pisella, L I; Molon, A; Attarian, S