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A

Agathe Roubertie

assistance publique hopitaux paris

49H指数
274论文数
8.2K被引数
收录论文 110
发表时间
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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？
errMolecular Genetics and Metabolism
IF3.5
err2026-07-01
err0
PREAI
errBerat, 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
err分享
err收藏
Prominent U-waves Without QT Prolongation in X-linked Creatine Transporter Deficiency Caused by SLC6A8 Variants由SLC6A8变异引起的X连锁肌酸转运蛋白缺乏症中，显著的U波伴QT间期不延长
errHeart Rhythm
IF5.7
err2025-11-14
err0
errOAAI
errAntoine Delinière; Chloé Mulatier; David Cheillan; Farha Gheurbi; Marion Buchy; Nathalie Dufay; Anne Moulin-Zinsch; Claire Bertail-Galoin; Maëva Sabour; Mariama Aarab; Thomas Perouse de Montclos; Diane Ouvrier-Buffet; Aymeric Boisson; Bertrand Stos; Mohamed Rharbaoui; Ganaëlle Remerand; Christine Barnerias; Anaïs Brassier; Alice Goldenberg; Agathe Roubertie
err分享
err收藏
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南
errJournal of Inherited Metabolic Disease
IF3.8
err2025-11-10
err0
errOAAI
errMariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
err分享
err收藏
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia重复中断的类型和位置作为影响 Friedreich 共济失调疾病严重程度和扩展尺寸的决定因素
errGenetics in Medicine
IF6.2
err2025-09-23
err0
PREAI
errMehdi Benkirane; Cecilia Marelli; Ariane Choumert; Cyril Goizet; Olivier Patat; Claire Ewenczyk; Mathieu Anheim; André Mégarbané; Lise Larrieu; Cyril Charlin; Fabienne Ory Magne; Annabelle Chaussenot; Mélanie Fradin; Claire Guissart; Morgane Pointaux; Mireille Cossée; Marie-Claire Vincent; Anne Bergougnoux; Clément Hersent; Corinne Bareil; Agathe Roubertie; Frédérique Fluchère; Mathilde Renaud; Laurent Kremer; Christine Tranchant; Shahram Attarian; Sylvie Odent; Vincent Laugel; Ulrike Walther-Louvier; Beatrice Desnous; Eric Bieth; Isabelle Husson; Jean Phillipe Azulay; François Rivier; Bérénice Doray; Alexandra Durr; Safa Aouinti; Nicolas Molinari; Michel Koenig
err分享
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Childhood POLG-related disorders: Focus on polyradiculoneuropathy儿童POLG相关疾病：聚焦于多发性神经根神经病
errMolecular Genetics and Metabolism
IF3.5
err2025-07-30
err0
PREAI
errClaire-Marine Bérat; Marie Hully; Agnès Rötig; Giulia Barcia; Zahra Assouline; Marie-Thérèse Abi-Warde; Christine Barnerias; Elise Payen; Marianne Jaroussie; Pauline Gaignard; Elise Lebigot; Agathe Roubertie; Nathalie Boddaert; Charles-Joris Roux; Pascale de Lonlay; Isabelle Desguerre; Arnold Munnich; Manuel Schiff; Cyril Gitiaux
err分享
err收藏
The genetic and phenotypic spectrum of GABRB1-related disorders
errBrain
IF11.7
err2025-06-05
err0
errOAAI
errCharissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Collin Ellis; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen
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French guidelines for the diagnosis and management of pure hereditary spastic paraplegia法国关于纯合遗传性痉挛性截瘫的诊断和管理指南
errRevue Neurologique
IF2.3
err2025-05-30
err0
errOAAI
errL. Mania-Pâris; C. Ewenczyk; G. Nicolas; M. Anheim; A. Durr; B. Pichon; M.-E. Isner-Horobeti; C. Angelini; C. Goizet; A. Roubertie; B. Soudrie; J.-B. Davion; I. Marolleau; I. Maumy; V. Pichon; C. Thauvin; Q. Thomas
err分享
err收藏
Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case StudiesGNAO1相关发育性和癫痫性脑病中的Cys225新发突变：病例研究的临床、分子和药理学特征分析
errMEDCOMM
IF10.7
err2025-05-07
err0
errOAAI
errLarasati, Yonika A.; Solis, Gonzalo P.; Koval, Alexey; Francois-Heude, Marie-Celine; Piarroux, Julie; Roubertie, Agathe; Yang, Ruihan; Zhang, Ying; Cao, Dezhi; Korff, Christian M.
err分享
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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review神经纤维瘤病-Noonan综合征：一项前瞻性单中心研究（纳入26例患者）及文献综述
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-27
err0
errOAAI
errBessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; Villeon, de La G.; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Genevieve, David; Cave, Helene; Willems, Marjolaine
err分享
err收藏
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/HyperekplexiaSTARDEV研究：患有惊跳病/易惊综合征患者的神经发育轨迹和长期结局
errMOVEMENT DISORDERS CLINICAL PRACTICE
IF2.7
err2025-04-07
err0
errOAAI
errPina, Diane; Roubertie, Agathe; Spitz, Marie-Aude; Ravelli, Claudia; Bahi-Buisson, Nadia; Gheurbi, Farha; Buchy, Marion; Loppinet, Thomas; Chemaly-Perin, Nicole; Nougues, Marie-Christine; Heron, Benedicte; Lopez, Regis; Anheim, Mathieu; Fradin, Melanie; Cances, Claude; Avez-Couturier, Justine; Dalmon, Fabienne; Lesca, Gaetan; Des Portes, Vincent; Lion-Francois, Laurence
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err收藏
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment双等位基因NDUFA13变异导致神经发育表型，逐渐神经功能缺损
errBRAIN COMMUNICATIONS
IF4.5
err2024-12-17
err0
errOAAI
errKaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
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err收藏
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia双等位基因PI4KA突变破坏b细胞代谢并导致b细胞淋巴细胞减少和低丙种球蛋白血症
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-09-23
err1
PREAI
errSaettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martin-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Mousavi, Fatemeh Emam; Nelson, Zoe; Gutierrez-Solana, Luis Gonzalez; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; Stoddard, Jennifer L.; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
err分享
err收藏
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
errANNALS OF NEUROLOGY
IF7.7
err2024-08-23
err0
errOAAI
errQuiros, Vincent Moya; Adham, Ahmed; Convers, Philippe; Lesca, Gaetan; Mauguiere, Francois; Soulier, Hugo; Arzimanoglou, Alexis; Bayat, Allan; Braakman, Hilde; Camdessanche, Jean-Philippe; Casenave, Philippe; Chaton, Laurence; Chaix, Yves; Chochoi, Maxime; Depienne, Christel; Desportes, Vincent; De Ridder, Jessie; Dinkelacker, Vera; Gardella, Elena; Kluger, Gerhard J.; Jung, Julien; Martin, Martine Lemesle; Mancardi, Maria Margherita; Mueller, Markus; Poulat, Anne-Lise; Platzer, Konrad; Roubertie, Agathe; Stokman, Marijn F.; Vulto-van Silfhout, Anneke T.; Wiegand, Gert; Mazzola, Laure
err分享
err收藏
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus
errDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
err2024-01-23
err2
errOAAI
errColmard, Maxime; Rivier, Francois; de Barry, Gaelle; Roubertie, Agathe; Urtiaga-Valle, Sarai; Mercedes-Alvarez, Blanca; Combes, Clementine; Cambonie, Gilles; Milesi, Christophe; Meyer, Pierre
err分享
err收藏
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementPMM2-CDG患者的急性并发症与止血异常之间的关联: 一项多中心研究的数据和急性治疗建议
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-11-01
err4
errOAAI
errWicker, Camille; Roux, Charles-Joris; Goujon, Louise; de Feraudy, Yvan; Hully, Marie; Brassier, Anais; Berat, Claire-Marine; Chemaly, Nicole; Wiedemann, Arnaud; Damaj, Lena; Abi-Warde, Marie-Therese; Dobbelaere, Dries; Roubertie, Agathe; Cano, Aline; Arion, Alina; Kaminska, Anna; Da Costa, Sabrina; Bruneel, Arnaud; Vuillaumier-Barrot, Sandrine; Boddaert, Nathalie; Pascreau, Tiffany; Borgel, Delphine; Kossorotoff, Manoelle; Harroche, Annie; de Lonlay, P.
err分享
err收藏
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2023-07-25
err1
errOAAI
errBaide-Mairena, Heidy; Coget, Arthur; Leboucq, Nicolas; Procaccio, Vincent; Blanluet, Maud; Meyer, Pierre; Malinge, Marie-Claire; Francois-Heude, Marie-Celine; Moreno, Mathis; Genevieve, David; Marelli, Cecilia; Roubertie, Agathe
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err收藏
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood
errMOVEMENT DISORDERS
IF7.6
err2023-07-19
err1
errOAAI
errPapadopoulou, Maria T.; Welniarz, Quentin; Roubertie, Agathe; Gras, Domitille; Milh, Mathieu; Panagiotakaki, Eleni; Roze, Emmanuel
err分享
err收藏
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
errNEUROLOGY
IF8.5
err2023-06-06
err6
errOAAI
errMochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Melodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; Tich, Sylvie Nguyen The; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent C.; Boespflug-Tanguy, Odile; De Vivo, Darryl
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err收藏
Eladocagene Exuparvovec Gene Therapy Improves Motor Development in Patients With Aromatic L-Amino Acid Decarboxylase Deficiency
errNEUROLOGY
IF8.5
err2023-04-25
err0
PREAI
errRussell, Alexis; Roubertie, Agathe; Chien, Yin-Hsiu; Lee, Ni-Chung; Sierra, Rafael; Turna, Jasmine; Wang, Antonia; Tai, Chun-Hwei; Hwu, Paul W-L
err分享
err收藏
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
errMOVEMENT DISORDERS
IF7.6
err2023-02-16
err2
errOAAI
errWelniarz, Quentin; Gras, Domitille; Roubertie, Agathe; Papadopoulou, Maria T.; Panagiotakaki, Eleni; Roze, Emmanuel
err分享
err收藏

研究方向

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H 指数: 120 · 论文数: 1.5K
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Renzo Guerrini
H 指数: 116 · 论文数: 2.1K
E
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