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

Indonesian update of urethral stricture characteristics and treatment patterns

印尼尿道狭窄特征和治疗模式的最新进展

Daniswara, Nanda; Putra, Donny Eka; Soebadi, Mohammad Ayodhia; Renaldo, Johan; Irdam, Gampo Alam; Soeroto, Adhitama Alam; Parardya, Aga; Hutasoit, Yonas Immanuel; Wallad, Caesar Khairul; Soebhali, Boyke; Prayudi, Nyoman Gede; Duarsa, Gede Wirya Kusuma; Pramana, I B Putra; Ertandri, Luki; Nasution, Ramlan; Hendry, Marta; Arianto, Eko; Sufriadi, Sufriadi; Yashar, Muhammad Adan; Syahrir, Syakri; Wardaya, Setya Anton Tusara; Nandana, Pandu Ishaq; Hutauruk, Eric Sebastian; Perdana, Noor Riza; Mardihusodo, Hajid Rahmadianto; Ardiansyah, Ferdi; Rulianov, Rulianov; Ariwicaksono, Cahyo; Ingratoeboen, Wyckmell Octof; Prihadi, J C; Gumilar, Ogi Bahaurini; Sitompul, Ardiansyah Periadi; Afriansyah, Andika; Nugroho, Firman; Nababan, Parsaoran; Tansol, Christiano; Tobing, Edwin R P L; Palinrungi, Muhammad Asykar A; Priyosantoso, Bacilius Agung; Soerohardjo, Indrawarman; Khalillulah, Said Alfin; Agil, Ahmad; Wibowo, Edi; Adi, Kuncoro; Satyagraha, Paksi

Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation

神经退行性疾病风险变异促进溶酶体TMEM106B原纤维的积累。

Replogle, John Michael; Marks, Jordan D; Fernandez, Martin G; Yuan, Hebao; Yu, Dahyun; Winters, Elizabeth; Jawahar, Vidhya Maheswari; Deshmukh, Rishi; Sutanto, Renaldo; Kowal, Isabelle; Frankenfield, Ashley; Shi, Rachel; Carlomagno, Yari; Jansen-West, Karen; Todd, Tiffany W; Kopach, Andrii; Sandra Ndayambaje, Iradukunda; Qi, Yue A; Shantaraman, Ananth; Pozo-Cabanell, Ignacio; Sheth, Udit; Yue, Mei; Duong, Duc; Ferguson, Shawn M; Bennett, David A; Damme, Markus; Boeve, Brad F; Day, Gregory S; Kellman, Benjamin; Skarnes, William C; Petersen, Ronald C; Josephs, Keith A; Graff-Radford, Neill R; McDonough, Justin A; Prudencio, Mercedes; Barmada, Sami J; Zhang, Yongjie; Hao, Ling; DeTure, Michael; Rawlinson, Bailey; Engelberg-Cook, Erica; Casey, Monica Castanedes; Perez, Nathan; Dickson, Dennis W; Wingo, Aliza; Liu, Yue; Seyfried, Nicholas T; Wingo, Thomas S; Mosalaganti, Shyamal; Petrucelli, Leonard; Ward, Michael E

Role of Vibronic Coupling for the Dynamics of Intersystem Crossing in Eu(3+) Complexes: an Avenue for Brighter Compounds

振动耦合在Eu(3+)配合物系间窜越动力学中的作用:通往更优异化合物的途径

Saraiva, Leonardo F; Carneiro Neto, Albano N; Bispo-Jr, Airton G; Quintano, Mateus M; Kraka, Elfi; Carlos, Luís D; Lima, Sergio A M; Pires, Ana M; Moura, Renaldo T Jr

Unfolding the Photophysical Behavior of Luminescent Polymeric Films Containing β‑Diketonate Tetrakis Eu(III) Complexes via Multilayer Quantum Mechanics

利用多层量子力学揭示含β-二酮四铕(III)配合物的发光聚合物薄膜的光物理行为

Saraiva, Leonardo F; Beltrame, Ariane C F; Bispo-Jr, Airton G; Canisares, Felipe S M; Carneiro Neto, Albano N; Moura, Renaldo T Jr; Kraka, E; Lima, Sergio A M; Pires, Ana M

The Two Faces of Pediatric SCA2

儿童SCA2的两面性

Rive Le Gouard, Nicolas; G Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne-Laure; de Sainte-Agathe, Jean-Madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J A Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

Unexpected coronary vasospasm: a case of systemic minoxidil-induced angina pectoris

意外冠状动脉痉挛:一例全身应用米诺地尔诱发的心绞痛

Pavrey, Renaldo; Chauhan, Vishal

Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report

一例伴有SAMHD1基因突变的Aicardi-Goutières综合征患者发生烟雾病:病例报告

Le Floch, Korentin; Barillon, Jeanne; Bonanno, Maria Chiara; Héron, Bénédicte; Mignot, Cyril; Renaldo, Florence; Chalard, François

Management of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy

产前诊断中枢神经系统畸形的管理:影响决策和终止妊娠时间的因素

Ibold, Christine; Lia, Massimiliano; Stepan, Holger; Faber, Renaldo; Riße, Sabine; Merkenschlager, Andreas; Schrey-Petersen, Susanne

Management of prolonged wrench penile entrapment: A case report & literature review

长期阴茎扭转嵌顿的治疗:病例报告及文献综述

Afrianto, Anugerah; Renaldo, Johan; Soebadi, Mohammad Ayodhia