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

Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types, Understanding and managing the condition: A practical guide for familiesBy Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Lily Collison, and Cheryl Tveit Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2025, £45.00 (paperback), £10.00 (eBook), pp. 316, ISBN: 9781952181214

脊柱侧弯:先天性、神经肌肉性、综合征性及其他非特发性类型,了解和管理病情:家庭实用指南。作者:Tenner J. Guillaume、Walter H. Truong、Danielle Harding、Lily Collison 和 Cheryl Tveit。吉列儿童医疗保健系列。明尼苏达州圣保罗:吉列儿童医疗保健出版社,2025 年,平装本 45 英镑,电子书 10 英镑,316 页,ISBN:9781952181214

Planté-Bordeneuve, Pauline; Bérat, Claire-Marine; Hanein, Sylvain; Gitiaux, Cyril; Steffann, Julie; Desguerre, Isabelle; Rötig, Agnès; Boddaert, Nathalie; Barcia, Giulia; Snyder, Brian

Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement

更正:BAG3相关肌原纤维肌病:重点关注其心脏受累情况

Daire, Elise; Panaioli, Elena; Gitiaux, Cyril; Gardin, Catherine; Waldmann, Victor; Bonnet, Damien; Wahbi, Karim; Khraiche, Diala

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies

重症肌无力患者若存在I型干扰素自身抗体,则发生低氧性COVID-19肺炎的风险较高

Gervais, Adrian; Marchal, Astrid; Maillard, Alexis; Le Voyer, Tom; Rosain, Jérémie; Philipot, Quentin; Bizien, Lucy; Peel, Jessica; Cederholm, Axel; Migaud, Mélanie; Pons, Sylvie; Saker, Kahina; Laforet, Pascal; Aubart, Mélodie; Gitiaux, Cyril; Biggs, Catherine; Leon Lopez, Rafael; Souvannanorath, Sarah; Tard, Céline; Nadaj Pakleza, Aleksandra; Grapperon, Aude-Marie; Heming, Nicholas; Annane, Djillali; Verschueren, Annie; Attarian, Shahram; Bigaut, Kévin; Hankiewicz, Karolina; Kouton, Ludivine; Villar-Quiles, Rocio-Nur; Cauquil, Cécile; Fleury, Marie-Céline; Rocher, Emilie; Nicolas, Guillaume; de Paula Estephan, Eduardo; da Penha Ananias Morita, Maria; Zanoteli, Edmar; Saied, Zakaria; Rachdi, Amine; Rim, Amouri; Belal, Samir; Ben Sassi, Samia; Hübers, Annemarie; Faure, Emmanuel; Desguerre, Isabelle; Basse, Clémence; Girard, Nicolas; Béziat, Vivien; Pan-Hammarström, Qiang; Hammarström, Lennart; Bodansky, Aaron; Parent, Audrey V; Anderson, Mark S; DeRisi, Joseph L; Demeret, Sophie; Truffault, Frédérique; Fort, Romain; Ader, Florence; Wallet, Florent; Abel, Laurent; Molina, Thierry; Alyanakian, Marie-Alexandra; Le Panse, Rozen; Solé, Guilhem; Cobat, Aurélie; Landegren, Nils; Casanova, Jean-Laurent; Puel, Anne; Bastard, Paul; Jouanguy, Emmanuelle

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

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

单亲同源二体:弗里德赖希共济失调新机制的案例研究

Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; de Sainte Agathe, Jean-Madeleine; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia

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

Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré Syndrome

血浆置换疗法治疗儿童急性横贯性脊髓炎、弛缓性脊髓炎和格林-巴利综合征的疗效和安全性

Fleurance, Alix; Joseph, Laure; Dehoux, Laurène; Barnerias, Christine; Hully, Marie; Kossorotoff, Manoelle; Sarda, Eugénie; Cheuret, Emmanuel; Bach, Nathalie; De Marcellus, Charles; Perez, Florine; Colmard, Maxime; Meyer, Pierre; Jokic, Mikael; Boyer, Olivia; Gitiaux, Cyril; Oualha, Mehdi; Desguerre, Isabelle; Aubart, Mélodie

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency

别嘌醇治疗可改善腺苷酸琥珀酸裂解酶缺乏症年轻患者的认知能力、适应性行为和生化指标

Rousselot-Pailley, Bérangère; Semeraro, Michaela; Marquant, Fabienne; Robel, Laurence; Gitiaux, Cyril; Kaminska, Anna; Mochel, Fanny; Bakouboula, Prissile; Elie, Caroline; Hennequin, Carole; Ceballos-Picot, Irène; Sanquer, Sylvia; de Lonlay, Pascale

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

BAG3相关肌原纤维肌病:重点关注其心脏受累情况

Daire, Elise; Panaioli, Elena; Gitiaux, Cyril; Gardin, Catherine; Waldmann, Victor; Bonnet, Damien; Wahbi, Karim; Khraiche, Diala

Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study

惯性测量单元在评估早发性脊髓性肌萎缩症患儿基因治疗后运动功能恢复方面的可接受性、有效性和响应性:一项前瞻性队列研究

Barrois, R; Tervil, B; Cacioppo, M; Barnerias, C; Deladrière, E; Leloup-Germa, V; Hervé, A; Oudre, L; Ricard, D; Vidal, P P; Vayatis, N; Roy, S Quijano; Brochard, S; Gitiaux, C; Desguerre, I