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

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom

英国先天性重症肌无力综合征患者的患病率和地理分布

Rossini, Elena; Henehan, Leighann; Dong, Yin Yao; Bettolo, Chiara Marini; Munot, Pinki; Jungbluth, Heinz; Norwood, Fiona; Hughes, Imelda; Beeson, David; Ramdas, Sithara; Palace, Jacqueline

Congenital myasthenic syndromes: increasingly complex

先天性重症肌无力综合征:日益复杂

Ramdas, Sithara; Beeson, David; Dong, Yin Yao

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre

先天性重症肌无力综合征:单中心呼吸系统结局的回顾性自然史研究

Poulos, Jordan; Samuels, Martin; Palace, Jacqueline; Beeson, David; Robb, Stephanie; Ramdas, Sithara; Chan, Samantha; Munot, Pinki

Genetic defects are common in myopathies with tubular aggregates

肌病伴管状聚集体时,遗传缺陷很常见。

Gang, Qiang; Bettencourt, Conceição; Brady, Stefen; Holton, Janice L; Healy, Estelle G; McConville, John; Morrison, Patrick J; Ripolone, Michela; Violano, Raffaella; Sciacco, Monica; Moggio, Maurizio; Mora, Marina; Mantegazza, Renato; Zanotti, Simona; Wang, Zhaoxia; Yuan, Yun; Liu, Wei-Wei; Beeson, David; Hanna, Michael; Houlden, Henry

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

由复发性 SLC25A1 变异引起的先天性重症肌无力综合征伴轻度智力障碍

Balaraju, Sunitha; Töpf, Ana; McMacken, Grace; Kumar, Veeramani Preethish; Pechmann, Astrid; Roper, Helen; Vengalil, Seena; Polavarapu, Kiran; Nashi, Saraswati; Mahajan, Niranjan Prakash; Barbosa, Ines A; Deshpande, Charu; Taylor, Robert W; Cossins, Judith; Beeson, David; Laurie, Steven; Kirschner, Janbernd; Horvath, Rita; McFarland, Robert; Nalini, Atchayaram; Lochmüller, Hanns

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.

TOR1AIP1 突变引起的先天性肌无力综合征:突触传递受损的新疾病途径

Cossins Judith, Webster Richard, Maxwell Susan, Rodríguez Cruz Pedro M, Knight Ravi, Llewelyn John Gareth, Shin Ji-Yeon, Palace Jacqueline, Beeson David

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

健康与疾病中的神经肌肉接头:调控突触形成和稳态的分子机制

Rodríguez Cruz, Pedro M; Cossins, Judith; Beeson, David; Vincent, Angela

The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle

胎儿和成人肌肉中乙酰胆碱受体的结构、功能和生理

Cetin, Hakan; Beeson, David; Vincent, Angela; Webster, Richard

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

由COL13A1基因突变引起的先天性重症肌无力综合征的临床表现谱

Rodríguez Cruz, Pedro M; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Wei Liu, Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Conti Reed, Umbertina; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Töpf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline; Beeson, David

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

在临床实践中实施基因组医学多学科团队方法治疗罕见病:一项前瞻性外显子组测序病例系列研究

Taylor, John; Craft, Jude; Blair, Edward; Wordsworth, Sarah; Beeson, David; Chandratre, Saleel; Cossins, Judith; Lester, Tracy; Németh, Andrea H; Ormondroyd, Elizabeth; Patel, Smita Y; Pagnamenta, Alistair T; Taylor, Jenny C; Thomson, Kate L; Watkins, Hugh; Wilkie, Andrew O M; Knight, Julian C