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

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

SCN1A功能获得性疾病谱:新型癫痫表型及其治疗意义

Brunklaus, Andreas; Brünger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nuñez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M; Pysden, Karen; Russ-Hall, Sophie J; Scheffer, Ingrid E; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M; Lal, Dennis; Møller, Rikke S; Mantegazza, Massimo; Cestèle, Sandrine

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

英国住院儿童和青少年SARS-CoV-2感染的神经系统表现:一项前瞻性全国队列研究

Ray, Stephen T J; Abdel-Mannan, Omar; Sa, Mario; Fuller, Charlotte; Wood, Greta K; Pysden, Karen; Yoong, Michael; McCullagh, Helen; Scott, David; McMahon, Martin; Thomas, Naomi; Taylor, Micheal; Illingworth, Marjorie; McCrea, Nadine; Davies, Victoria; Whitehouse, William; Zuberi, Sameer; Guthrie, Keira; Wassmer, Evangeline; Shah, Nikit; Baker, Mark R; Tiwary, Sangeeta; Tan, Hui Jeen; Varma, Uma; Ram, Dipak; Avula, Shivaram; Enright, Noelle; Hassell, Jane; Ross Russell, Amy L; Kumar, Ram; Mulholland, Rachel E; Pett, Sarah; Galea, Ian; Thomas, Rhys H; Lim, Ming; Hacohen, Yael; Solomon, Tom; Griffiths, Michael J; Michael, Benedict D; Kneen, Rachel

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

卡马西平可改善先天性中枢性低通气综合征(CCHS)患者的呼吸暂停发作,该综合征伴有新型PHOX2B外显子1错义突变

Schirwani, Schaida; Pysden, Karen; Chetcuti, Philip; Blyth, Moira

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

PDE10A基因的双等位基因突变导致纹状体PDE10A缺失,并引发婴儿期发病的多动症。

Diggle, Christine P; Sukoff Rizzo, Stacey J; Popiolek, Michael; Hinttala, Reetta; Schülke, Jan-Philip; Kurian, Manju A; Carr, Ian M; Markham, Alexander F; Bonthron, David T; Watson, Christopher; Sharif, Saghira Malik; Reinhart, Veronica; James, Larry C; Vanase-Frawley, Michelle A; Charych, Erik; Allen, Melanie; Harms, John; Schmidt, Christopher J; Ng, Joanne; Pysden, Karen; Strick, Christine; Vieira, Päivi; Mankinen, Katariina; Kokkonen, Hannaleena; Kallioinen, Matti; Sormunen, Raija; Rinne, Juha O; Johansson, Jarkko; Alakurtti, Kati; Huilaja, Laura; Hurskainen, Tiina; Tasanen, Kaisa; Anttila, Eija; Marques, Tiago Reis; Howes, Oliver; Politis, Marius; Fahiminiya, Somayyeh; Nguyen, Khanh Q; Majewski, Jacek; Uusimaa, Johanna; Sheridan, Eamonn; Brandon, Nicholas J

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

MICU1基因纯合缺失导致儿童期出现疲劳和嗜睡症状

Lewis-Smith, David; Kamer, Kimberli J; Griffin, Helen; Childs, Anne-Marie; Pysden, Karen; Titov, Denis; Duff, Jennifer; Pyle, Angela; Taylor, Robert W; Yu-Wai-Man, Patrick; Ramesh, Venkateswaran; Horvath, Rita; Mootha, Vamsi K; Chinnery, Patrick F

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

MICU1 的功能丧失突变会导致大脑和肌肉疾病,这与线粒体钙信号的原发性改变有关

Clare V Logan, György Szabadkai, Jenny A Sharpe, David A Parry, Silvia Torelli, Anne-Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A Johnson, Nicola Y Roberts, David T Bonthron, Karen A Pysden, Tamieka Whyte, Iulia Munteanu, A Reghan Foley, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Nata