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

Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience

胚胎植入前基因检测在镰状细胞病中的有效性:来自单中心经验的启示

Aganahi, A; Souare, F; Mayeur, A; Thomas, H; Monnot, S; Benachi, A; Joseph, L; Habibi, A; Frydman, N; Grynberg, M; Steffann, J; Sonigo, C

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

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

Epilepsia Open—August 2025 Announcements

癫痫公开赛——2025年8月公告

Barcia, Giulia; Chemaly, Nicole; Gobin-Limballe, Stéphanie; Losito, Emma; Aubart, Mélodie; Sarda, Eugénie; Assouline, Zahra; Plante-Bordeneuve, Pauline; Hully, Marie; Barrois, Remi; Barnerias, Christine; Sareidaki, Doxa; Zeitoun, Delphine Coste; Eisermann, Monika; Fourrage, Cécile; Hanein, Sylvain; Rio, Marlène; Boddaert, Nathalie; Desguerre, Isabelle; Kaminska, Anna; Steffann, Julie; Nabbout, Rima

Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1

肌强直性营养不良1型植入前基因检测中的卵巢反应

Sonigo, Charlotte; Ranisavljevic, Noémie; Guigui, Mathilde; Anahory, Tal; Mayeur, Anne; Moutou, Céline; Rongières, Catherine; Reignier, Arnaud; Leperlier, Florence; Melaye, Gaelle; Girardet, Anne; Ray, Pierre F; Steffann, Julie; Pirrello, Olivier; Grynberg, Michaël

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies

组织特异性线粒体DNA、MT-TF、线粒体肌病致病变异

Rose, Sylvia; Trimouille, Aurélien; Lacombe, Didier; Malfatti, Edoardo; Assouline, Zahra; Steffann, Julie; Desguerre, Isabelle; Munnich, Arnold; Rötig, Agnès; Barcia, Giulia

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

色素失禁症是胸腺发育不良、I型干扰素自身抗体和病毒性疾病的病因。

Jérémie Rosain ,Tom Le Voyer # ,Xian Liu # ,Adrian Gervais # ,Laura Polivka # ,Axel Cederholm # ,Laureline Berteloot # ,Audrey V Parent # ,Alessandra Pescatore # ,Ezia Spinosa # ,Snezana Minic # ,Ana Elisa Kiszewski # ,Miyuki Tsumura # ,Chloé Thibault # ,Maria Esnaola Azcoiti # ,Jelena Martinovic # ,Quentin Philippot # ,Taushif Khan # ,Astrid Marchal # ,Bénédicte Charmeteau-De Muylder # ,Lucy Bizien # ,Caroline Deswarte # ,Lillia Hadjem ,Marie-Odile Fauvarque ,Karim Dorgham ,Daniel Eriksson ,Emilia Liana Falcone ,Mathilde Puel ,Sinem Ünal ,Amyrath Geraldo ,Corentin Le Floc'h ,Hailun Li ,Sylvie Rheault ,Christine Muti ,Claire Bobrie-Moyrand ,Anne Welfringer-Morin ,Ramsay L Fuleihan ,Romain Lévy ,Marie Roelens ,Liwei Gao ,Marie Materna ,Silvia Pellegrini ,Lorenzo Piemonti ,Emilie Catherinot ,Jean-Christophe Goffard ,Arnaud Fekkar ,Aissata Sacko-Sow ,Camille Soudée ,Soraya Boucherit ,Anna-Lena Neehus ,Cristina Has ,Stefanie Hübner ,Géraldine Blanchard-Rohner ,Blanca Amador-Borrero ,Takanori Utsumi ,Maki Taniguchi ,Hiroo Tani ,Kazushi Izawa ,Takahiro Yasumi ,Sotaro Kanai ,Mélanie Migaud ,Mélodie Aubart ,Nathalie Lambert ,Guy Gorochov ,Capucine Picard ,Claire Soudais ,Anne-Sophie L'Honneur ,Flore Rozenberg ,Joshua D Milner ,Shen-Ying Zhang ,Pierre Vabres ,Dusan Trpinac ,Nico Marr ,Nathalie Boddaert ,Isabelle Desguerre ,Manolis Pasparakis ,Corey N Miller ,Cláudia S Poziomczyk ,Laurent Abel ,Satoshi Okada ,Emmanuelle Jouanguy ,Rémi Cheynier ,Qian Zhang ,Aurélie Cobat ,Vivien Béziat ,Bertrand Boisson ,Julie Steffann ,Francesca Fusco ,Matilde Valeria Ursini ,Smail Hadj-Rabia ,Christine Bodemer ,Jacinta Bustamante ,Hervé Luche ,Anne Puel # ,Gilles Courtois # ,Paul Bastard # ,Nils Landegren # ,Mark S Anderson # ,Jean-Laurent Casanova #

Primary mitochondrial disorders and mimics: Insights from a large French cohort

原发性线粒体疾病及其类似疾病:来自法国大型队列研究的启示

Rouzier, Cécile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Céline; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valérie; Gueguen, Naïg; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurélien; Hardy, Gaëlle; Allouche, Stéphane; Acquaviva-Bourdain, Cécile; Pagan, Cécile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Véronique; Procaccio, Vincent

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

从医生和护理人员自我报告的两组DDX3X相关疾病数据中汲取的经验教训

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Geneviève, David