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

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1

Nusinersen 与基因疗法在 1 型脊髓性肌萎缩症中的临床疗效比较

Ropars, Juliette; Cances, Claude; Garcia-Uzquiano, Rocio; Gomez-Garcia de la Banda, Marta; Barnerias, Christine; Audic, Frédérique; Durigneux, Julien; Halbert, Cécile; Nkam, Lionelle; Laugel, Vincent; Espil, Caroline; Walther-Louvier, Ulrike; Davion, Jean-Baptiste; Isapof, Arnaud; Le Goff, Laure; Desguerre, Isabelle; Quijano-Roy, Susana; Grimaldi, Lamiae

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

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

在脊髓性肌萎缩症1型患者中,onasemnogene abeparvovec单药治疗的真实世界多学科疗效:法国队列在治疗前三年的经验

Desguerre, Isabelle; Barrois, Rémi; Audic, Frédérique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; Gomez-Garcia de la Banda, Marta; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Pervillé, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Hervé; Trommsdorff, Valérie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cécilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude

A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

一种此前未报道过的NARS1变异导致法国一个家族出现显性远端遗传性运动神经病。

Theuriet, Julian; Marte, Sheila; Isapof, Arnaud; de Becdelièvre, Alix; Konyukh, Marina; Laureano-Figueroa, Stephanie M; Latour, Philippe; Quadrio, Isabelle; Maisonobe, Thierry; Antonellis, Anthony; Stojkovic, Tanya

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

GGPS1-associated muscular dystrophy with and without hearing loss

GGPS1相关性肌营养不良症伴或不伴听力丧失

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1

父母的困境:脊髓性肌萎缩症(SMA)1型患儿的治疗决策

Boursange, Sophie; Araneda, Marco; Stalens, Caroline; Desguerre, Isabelle; Barnerias, Christine; Nougues, Marie-Christine; Isapof, Arnaud; Quijano-Roy, Susana; Blu Genestine, Nadia; Ouillade, Laetitia; Martinez Jalilie, Maripaz; Castiglioni, Claudia; Boespflug-Tanguy, Odile; Gargiulo, Marcela

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

PURA相关发育和癫痫性脑病:表型和基因型谱

Johannesen, Katrine M; Gardella, Elena; Gjerulfsen, Cathrine E; Bayat, Allan; Rouhl, Rob P W; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Them, Frédéric; Denommé-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lía; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S; Naidu, SakkuBai R; Collier, Ashley; Brilstra, Eva H; Li, Mindy H; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Góes, Fernanda; Leventer, Richard J; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Grønborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L; Helbig, Ingo; Ortiz-González, Xilma R; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Møller, Rikke S; Rubboli, Guido

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

TCF7L2基因的新生突变与一种综合征性神经发育障碍相关。

Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs-Hoeijmakers, Janneke; Boon, Elles M J; van Hagen, Johanna M; Zwijnenburg, Petra; Weiss, Marjan M; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G; Kotzot, Dieter; Mayr, Johannes A; Ben-Omran, Tawfeg; Mahmoud, Laila; Pais, Lynn S; Walsh, Christopher A; Shashi, Vandana; Sullivan, Jennifer A; Stong, Nicholas; Lecoquierre, Francois; Guerrot, Anne-Marie; Charollais, Aude; Rodan, Lance H