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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

CTNNB1-related disorders: clinical and radiological contributions from a French cohort

CTNNB1相关疾病:来自法国队列的临床和放射学研究

Chauvet-Piat, Eline; François-Heude, Marie-Céline; Manes, Gaël; Coget, Arthur; Leboucq, Nicolas; Lecardonnel, Bérénice; Baide-Mairena, Heidy; Allais, Marine; Touati, Souad; Sanchez, Stéphanie; Khalil, Mirna; Chevassus, Hugues; Willems, Marjolaines; Geneviève, David; Serrand, Marion; Mazzola, Laure; Dubard, Vincent; Renaud, Mathilde; Le Camus, Caroline; More, Rebecca; Milh, Mathieu; Paris, Caroline; Cécile, Ians-Bouteiller; Roubertie, Agathe

Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies

GNAO1相关发育性和癫痫性脑病中Cys225位点的新突变:病例研究的临床、分子和药理学分析

Larasati, Yonika A; Solis, Gonzalo P; Koval, Alexey; François-Heude, Marie-Céline; Piarroux, Julie; Roubertie, Agathe; Yang, Ruihan; Zhang, Ying; Cao, Dezhi; Korff, Christian M; Katanaev, Vladimir L

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; 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; Vahidi Mehrjardi, Mohammad Yahya; 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

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶(TH)缺乏症诊断和治疗共识指南

Bondarenko, Mariya Sigatullina; Kuseyri Hübschmann, Oya; Kulhánek, Jan; Pons, Roser; Pearson, Toni S; Jeltsch, Kathrin; Badnjarevic, Ivana; Wassenberg, Tessa; Horvath, Gabriella; Stevanovic, Galina; Kurian, Manju A; Cortès-Saladelafont, Elisenda; Roubertie, Agathe; Leuzzi, Vincenzo; Bertoldi, Mariarita; Mastrangelo, Mario; Assmann, Birgit; Garcia-Cazorla, Angeles; Opladen, Thomas

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type

细胞内钴胺素代谢紊乱:快速诊断的重要性——以一例早发性甲基丙二酸尿症和同型半胱氨酸尿症(钴胺素C型)病例报告为例

Mondesert, Etienne; Baud, Bastien; Roubertie, Agathe; Benoist, Jean-François; Grillet, Pierre-Edouard; Cristol, Jean-Paul; Francois-Heude, Marie Céline; Schiff, Manuel; Badiou, Stéphanie

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

神经纤维瘤病-努南综合征:一项前瞻性单中心研究(纳入26例患者)及文献综述

Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; G, de La Villeon; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Geneviève, David; Cavé, Hélène; Willems, Marjolaine

French virtual multidisciplinary team meeting for pediatric movement disorders (PMD-vMDT): a three-year survey

法国儿童运动障碍虚拟多学科团队会议(PMD-vMDT):一项为期三年的调查

François-Heude, Marie-Céline; Lecardonnel, Bérénice; Papathanasiou, Matthildi; Chauvet-Piat, Eline; Laroche, Cécile; Spitz, Marie-Aude; Rodier, Jean-Gilles; Roubertie, Agathe

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

ADCY5嵌合变异:不容错过的诊断

Innocenti, Alice; Roze, Emmanuel; Riant, Florence; François-Heude, Marie-Céline; Lecardonnel, Bérénice; Garone, Giacomo; Colmard, Maxime; Chauvet-Piat, Eline; Chaux, Anne-Cécile; Spitz, Marie-Aude; Desnous, Beatrice; Sarret, Catherine; Damier, Philippe; Wirth, Thomas; Anheim, Mathieu; Retailleau, Emilie; Conabady, Estelle; Dubacq, Caroline; Trouillard, Oriane; Méneret, Aurélie; Roubertie, Agathe

KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal

KCNMA1相关行为停止和姿势反射丧失事件:重新评估

Roze, Emmanuel; Silveira-Moriyama, Laura; Leu-Semenescu, Smaranda; Villeneuve, Nathalie; Lecardonnel, Bérénice; François-Heude, Marie-Céline; Meyer, Pierre; de Gusmao, Claudio M; Roubertie, Agathe