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

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain

利司他普兰治疗脊髓性肌萎缩症:安全性概况及在英国儿科人群早期药物获取计划中的应用

Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

胎儿乙酰胆碱受体抗体相关疾病(FARAD)的新出现谱

Allen, Nicholas M; O'Rahelly, Mark; Eymard, Bruno; Chouchane, Mondher; Hahn, Andreas; Kearns, Gerry; Kim, Dae-Seong; Byun, Shin Yun; Nguyen, Cam-Tu Emilie; Schara-Schmidt, Ulrike; Kölbel, Heike; Marina, Adela Della; Schneider-Gold, Christiane; Roefke, Kathryn; Thieme, Andrea; Van den Bergh, Peter; Avalos, Gloria; Álvarez-Velasco, Rodrigo; Natera-de Benito, Daniel; Cheng, Man Hin Mark; Chan, Wing Ki; Wan, Hoi Shan; Thomas, Mary Ann; Borch, Lauren; Lauzon, Julie; Kornblum, Cornelia; Reimann, Jens; Mueller, Andreas; Kuntzer, Thierry; Norwood, Fiona; Ramdas, Sithara; Jacobson, Leslie W; Jie, Xiaobo; Fernandez-Garcia, Miguel A; Wraige, Elizabeth; Lim, Ming; Lin, Jean Pierre; Claeys, Kristl G; Aktas, Selma; Oskoui, Maryam; Hacohen, Yael; Masud, Ameneh; Leite, M Isabel; Palace, Jacqueline; De Vivo, Darryl; Vincent, Angela; Jungbluth, Heinz

Making sense of missense variants in TTN-related congenital myopathies

理解 TTN 相关先天性肌病中的错义变异

Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Özkan Özdemir, Hülya-Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joël Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Mi

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility

与早发性骨骼肌病相关的人类 343delT HSPB5 伴侣导致蛋白质溶解度缺陷

Katie A Mitzelfelt, Pattraranee Limphong, Melinda J Choi, Frances D L Kondrat, Shuping Lai, Kurt D Kolander, Wai-Meng Kwok, Qiang Dai, Michael N Grzybowski, Huali Zhang, Graydon M Taylor, Qiang Lui, Mai T Thao, Judith A Hudson, Rita Barresi, Kate Bushby, Heinz Jungbluth, Elizabeth Wraige, Aron M Geu

Surgery for scoliosis in Duchenne muscular dystrophy

杜氏肌营养不良症脊柱侧弯手术

Cheuk, Daniel K L; Wong, Virginia; Wraige, Elizabeth; Baxter, Peter; Cole, Ashley

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

新的突变拓宽了慢肌/β-心肌肌球蛋白(MYH7)远端肌病的表型谱。

Lamont, Phillipa J; Wallefeld, William; Hilton-Jones, David; Udd, Bjarne; Argov, Zohar; Barboi, Alexandru C; Bonneman, Carsten; Boycott, Kym M; Bushby, Kate; Connolly, Anne M; Davies, Nicholas; Beggs, Alan H; Cox, Gerald F; Dastgir, Jahannaz; DeChene, Elizabeth T; Gooding, Rebecca; Jungbluth, Heinz; Muelas, Nuria; Palmio, Johanna; Penttilä, Sini; Schmedding, Eric; Suominen, Tiina; Straub, Volker; Staples, Christopher; Van den Bergh, Peter Y K; Vilchez, Juan J; Wagner, Kathryn R; Wheeler, Patricia G; Wraige, Elizabeth; Laing, Nigel G

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

GDP-甘露糖焦磷酸化酶B的突变会导致先天性和肢带型肌营养不良症,并伴有α-肌营养不良蛋白聚糖的糖基化不足。

Carss, Keren J; Stevens, Elizabeth; Foley, A Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van Scherpenzeel, Monique; Moore, Steven A; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten G; Abdenur, Jose E; Grosmann, Carla M; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh B; Young, Helen K; Wraige, Elizabeth; Yau, Shu; Brodd, Lina; Feng, Lucy; Sewry, Caroline; MacArthur, Daniel G; North, Kathryn N; Hoffman, Eric; Stemple, Derek L; Hurles, Matthew E; van Bokhoven, Hans; Campbell, Kevin P; Lefeber, Dirk J; Lin, Yung-Yao; Muntoni, Francesco

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

婴儿期全身性动脉钙化和假性黄色瘤可由ENPP1或ABCC6基因突变引起。

Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

遗传性多巴胺转运体缺乏综合征的临床和分子特征:一项观察性队列研究和实验研究

Kurian, Manju A; Li, Yan; Zhen, Juan; Meyer, Esther; Hai, Nebula; Christen, Hans-Jürgen; Hoffmann, Georg F; Jardine, Philip; von Moers, Arpad; Mordekar, Santosh R; O'Callaghan, Finbar; Wassmer, Evangeline; Wraige, Elizabeth; Dietrich, Christa; Lewis, Timothy; Hyland, Keith; Heales, Simon Jr; Sanger, Terence; Gissen, Paul; Assmann, Birgit E; Reith, Maarten E A; Maher, Eamonn R

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

先天性痛觉缺失:SCN9A 基因错义突变和框内缺失突变的新发现

Cox, James J; Sheynin, Jony; Shorer, Zamir; Reimann, Frank; Nicholas, Adeline K; Zubovic, Lorena; Baralle, Marco; Wraige, Elizabeth; Manor, Esther; Levy, Jacov; Woods, C Geoffery; Parvari, Ruti