未登录 TTC19-related mitochondrial disease: A characteristic neuroimaging signature? TTC19相关线粒体疾病：一种特征性神经影像标志物？ Berat, Claire-Marine; Barcia, Giulia; Gaignard, Pauline; Assouline, Zahra; de la Cruz, Elisa; Francois-Heude, Marie-Celine; Roubertie, Agathe; Cances, Claude; Dufour, Louis; Alison, Marianne; Patat, Olivier; Trimouille, Aurelien; Saadi, Samira Ait-El-Mkadem; Rotig, Agnes; Hully, Marie; Rouzier, Cecile; Desguerre, Isabelle; Boddaert, Nathalie; Schiff, Manuel 分享 收藏
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Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré Syndrome 儿童急性横贯性或弛缓性脊髓炎及吉兰-巴雷综合征患者行血浆置换的疗效与安全性 Fleurance, Alix; Joseph, Laure; Dehoux, Laurene; Barnerias, Christine; Hully, Marie; Kossorotoff, Manoelle; Sarda, Eugenie; Cheuret, Emmanuel; Bach, Nathalie; De Marcellus, Charles; Perez, Florine; Colmard, Maxime; Meyer, Pierre; Jokic, Mikael; Boyer, Olivia; Gitiaux, Cyril; Oualha, Mehdi; Desguerre, Isabelle; Aubart, Melodie 分享 收藏
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Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Cavadias, Iphigenie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloe; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-dit-Maire, Pierre; Hadj-Rabia, Smail; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valerie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Veronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina 分享 收藏
Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients Nabbout, Rima; Molimard, Agathe; Scorrano, Giovanna; Aubart, Melodie; Breuillard, Delphine; Delaune, Morgane; Barcia, Giulia; Chemaly, Nicole; Barthez, Marie-Anne; Desguerre, Isabelle 分享 收藏
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; Agathe, Jean-Madeleine de Sainte; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia 分享 收藏
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础 Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent 分享 收藏
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 Desguerre, Isabelle; Barrois, Remi; Audic, Frederique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; de la Banda, Marta Gomez-Garcia; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Perville, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Herve; Trommsdorff, Valerie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cecilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude 分享 收藏
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency Rotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel 分享 收藏
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Polyradiculoneuritis on MRI An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy Roux, Charles-Joris; Dufeu-Berat, Claire-Marine; Hully, Marie; Rotig, Agnes; Schiff, Manuel; De Lonlay, Pascale; Aubart, Melodie; Alison, Marianne; Jaroussie, Marianne; Levy, Raphael; Dangouloff-Ros, Volodia; Barcia, Giulia; Desguerre, Isabelle; Munnich, Arnold; Gitiaux, Cyril; Boddaert, Nathalie 分享 收藏
Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approach Molimard, Agathe; Foissac, Frantz; Bouazza, Naim; Gana, Ines; Benaboud, Sihem; Froelicher, Leo; Hirt, Deborah; Urien, Saik; Desguerre, Isabelle; Treluyer, Jean-Marc; Chemaly, Nicole; Nabbout, Rima 分享 收藏
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