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

Corrigendum to "Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology" [Heliyon Volume 9, Issue 8, August 2023, Article e18530]

对“杜氏肌营养不良症的综合基因组学、蛋白质组学和认知评估提示星形胶质细胞中心病理”的更正[Heliyon 第 9 卷,第 8 期,2023 年 8 月,文章 e18530]

Wijekoon, Nalaka; Gonawala, Lakmal; Ratnayake, Pyara; Dissanayaka, Pulasthi; Gunarathne, Isuru; Amaratunga, Dhammika; Liyanage, Roshan; Senanayaka, Sunethra; Wijesekara, Saraji; Gunasekara, Hemal H; Vanarsa, Kamala; Castillo, Jessica; Hathout, Yetrib; Dalal, Ashwin; Steinbusch, Harry W M; Hoffman, Eric; Mohan, Chandra; de Silva, K Ranil D

Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation

斯里兰卡公益神经遗传诊断服务的诊断结果:创造财富

Gonawala, Lakmal; Wijekoon, Nalaka; Attanayake, Darshika; Ratnayake, Pyara; Sirisena, Darshana; Gunasekara, Harsha; Dissanayake, Athula; Keshavaraj, Ajantha; Mohan, Chandra; Steinbusch, Harry W M; Hoffman, Eric P; Dalal, Ashwin; de Silva, K Ranil D

Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets

罕见神经遗传疾病患者血清代谢组学特征:揭示潜在生物标志物和治疗靶点

Wijekoon, Nalaka; Gonawala, Lakmal; Ratnayake, Pyara; Sirisena, Darshana; Gunasekara, Harsha; Dissanayake, Athula; Amaratunga, Dhammika; Steinbusch, Harry W M; Hathout, Yetrib; Hoffman, Eric P; Dalal, Ashwin; Mohan, Chandra; de Silva, K Ranil D

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

标题:斯里兰卡肌营养不良症的分子诊断及其表型预测:来自南亚资源匮乏地区的启示

Wijekoon, Nalaka; Gonawala, Lakmal; Ratnayake, Pyara; Liyanage, Roshan; Amaratunga, Dhammika; Hathout, Yetrib; Steinbusch, Harry W M; Dalal, Ashwin; Hoffman, Eric P; de Silva, K Ranil D

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report

线粒体脑肌病、乳酸性酸中毒和卒中样发作合并线粒体肌病:病例报告

Gunawardena, Kawmadi; Praveenan, Somasundaram; Dissanayake, Vajira H W; Ratnayake, Pyara

Gene therapy for selected neuromuscular and trinucleotide repeat disorders - An insight to subsume South Asia for multicenter clinical trials

针对特定神经肌肉疾病和三核苷酸重复序列疾病的基因疗法——将南亚纳入多中心临床试验的思路

Wijekoon, Nalaka; Gonawala, Lakmal; Ratnayake, Pyara; Sirisena, Darshana; Gunasekara, Harsha; Dissanayake, Athula; Senanayake, Sunethra; Keshavaraj, Ajantha; Hathout, Yetrib; Steinbusch, Harry W M; Mohan, Chandra; Dalal, Ashwin; Hoffman, Eric; D de Silva, K Ranil

Neurological disorders associated with COVID-19 in Sri Lanka

斯里兰卡与新冠肺炎相关的神经系统疾病

Chang, Thashi; Wijeyekoon, Ruwani; Keshavaraj, Ajantha; Ranawaka, Udaya; Senanayake, Sunethra; Ratnayake, Pyara; Senanayake, Bimsara; Caldera, Manjula C; Pathirana, Gamini; Sirisena, Darshana; Wanigasinghe, Jithangi; Gunatilake, Saman

Experience during COVID-19 lockdown and self-managing strategies among caregivers of children with epilepsy: A study from low middle income country

新冠疫情封锁期间癫痫患儿照护者的经历及自我管理策略:一项来自中低收入国家的研究

Wanigasinghe, Jithangi; Jayawickrama, Ashan; Hewawitharana, Gemunu; Munasinghe, Jagath; Weeraratne, Chathurika T; Ratnayake, Pyara; Wijesekara, Dimuthu S; Fernando, Sanjaya; Rupasinghe, Priyanka

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

COL6A1基因新变异导致近亲结婚家族中出现乌尔里希先天性肌营养不良症:病例报告

Sirisena, Nirmala Dushyanthi; Samaranayake, U M Jayami Eshana; Neto, Osorio Lopes Abath; Foley, A Reghan; Pathirana, B A P Sajeewani; Neththikumara, Nilaksha; Paththinige, C Sampath; Rathnayake, Pyara; Donkervoort, Sandra; Bönnemann, Carsten G; Dissanayake, Vajira H W

What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World

神经遗传疾病中我们未能看到的真相:来自发展中国家的鸟瞰视角

Samaranayake, Navami; Dissanayaka, Pulasthi; Gunarathna, Isuru; Gonawala, Lakmal; Wijekoon, Nalaka; Rathnayake, Pyara; Sirisena, Darshana; Gunasekara, Harsha; Dissanayake, Athula; Senanayake, Sunethra; Anand, Akshay; Satyamoorthy, Kapaettu; Dalal, Ashwin; de Silva, K Ranil D