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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders

LMSz 方法——一种用于构建罕见疾病基因特异性生长曲线的自动化、可扩展的方法

Low, Karen J; Foreman, Julia; Hobson, Rachel J; Kwuo, Hannah; Martinez-Cayuelas, Elena; Almoguera, Berta; Marin-Reina, Purin; Caraffi, Stefano G; Garavelli, Livia; Woods, Emily; Balasubramanian, Meena; Bayat, Allan; Ockeloen, Charlotte W; Wright, Caroline M; Firth, Helen V; Cole, Tim J

Pharmacokinetics of Perampanel in Danish Paediatric Patients With Epilepsy Based on Therapeutic Drug Monitoring

基于治疗药物监测的丹麦儿童癫痫患者吡仑帕奈的药代动力学研究

Angelucci, Sara; Houlind, Morten Baltzer; Hansen, Maja Stjerne; Hansen, Anne Forsingdal Højte; Shorter, John R; Bayat, Allan

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction

SLC1A2相关神经发育障碍的严重程度与转运蛋白功能障碍相关。

Kovermann, Peter; Bayat, Allan; Fenger, Christina D; Leeuwen, Lisette; Borovikov, Artem; Sharkov, Artem; Levrat, Virginie; Lesca, Gaetan; Perrin, Laurence; Levy, Jonathan; Fahlke, Christoph; Møller, Rikke S; Jensen, Anders A

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

剪接因子SF1的杂合致病变异会导致多种神经发育障碍。

Bou-Rouphael, Johnny; Cospain, Auriane; Courtin, Thomas; Keren, Boris; Marie, Corentine; Lesieur-Sebellin, Marion; Heron, Delphine; de Sainte Agathe, Jean-Madeleine; Heide, Solveig; Lejeune, Elodie; Quelin, Chloe; Lecoquierre, François; Nizon, Mathilde; Isidor, Bertrand; Besnard, Thomas; Cogne, Benjamin; Latypova, Xenia; Levy, Jonathan; Joset, Pascal; Steindl, Katharina; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Thomas, Mary Ann; Abubakar, Amina; Lynch, Sally Ann; Müller, Amelie J; Haack, Tobias B; Zenker, Martin; Parker, Michael; Clossick, Emma; Spiller, Michael; Crookes, Renarta; Holder-Espinasse, Muriel; Bayat, Allan; Møller, Rikke S; Mieszczanek, Tomasz Stanislaw; de la Grange, Pierre; Buratti, Julien; Marijon, Pierre; Ataf, Sabir; Gavin, Ryan; Parras, Carlos; Hassan, Bassem A; Mignot, Cyril; El Khattabi, Laïla

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy

ATP6V0C基因变异与Dravet样发育性癫痫性脑病相关。

Rong, Marlene; Marques, Paula T; Ali, Quratulain Zulfiqar; Morcos, Ricardo; Chandran, Ilakkiah; Qaiser, Farah; Møller, Rikke S; Bayat, Allan; Rubboli, Guido; Gardella, Elena; Reuter, Miriam S; Sands, Tristan T; Scheffer, Ingrid E; Schneider, Amy; Poduri, Annapurna; Wirrell, Elaine; Nabbout, Rima; Sullivan, Joseph; Valente, Kette; Auvin, Stéphane; Knupp, Kelly G; Brunklaus, Andreas; Aledo-Serrano, Ángel; Andrade, Danielle M

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

MBOAT7脑病:神经病学和癫痫病学特征

De la Rosa, Sebastian Ortiz; Rizzo, Valentina; Jauss, Robin-Tobias; Bartolomaeus, Tobias; Escolar, Maria; Bernard, Geneviève; Gavrilova, Ralitza; Ahrens-Nicklas, Rebecca; Lemire, Gabrielle; Boycott, Kym M; Mercimek-Andrews, Saadet; Prontera, Paolo; Costa, Cinzia; Rakic, Bojana; Boerkoel, Cornelius F; Huynh, Stephanie; Huh, Linda; Sherr, Elliott; Argilli, Emanuela; Ortigoza-Escobar, Juan Darío; Casas-Alba, Didac; Nunes, Tania; Koolen, David A; Platzer, Konrad; Khinchi, Marianne S; Gardella, Elena; Fenger, Christina D; Møller, Rikke S; Bayat, Allan

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire

超越童年的生活:通过在线患者/照护者共同填写的问卷调查,深入了解91位KBG综合征成年患者的生活体验

Low, Karen J; Walker, Moira; Treneman-Evans, Georgia; Bramswig, Nuria C; Herlin, Morten K; Lesca, Gaetan; Scarano, Emanuela; Ockeloen, Charlotte W; Bayat, Allan