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

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

TEFM 变异会损害线粒体转录,导致儿童期神经系统疾病

Lindsey Van Haute #, Emily O'Connor #, Héctor Díaz-Maldonado #, Benjamin Munro #, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Hima

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

与严重发育迟缓、失语和肌无力相关的纯合 PPP1R21 剪接变异导致蛋白酶体功能激活

Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom,

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

印度患者 FKRP 相关肌营养不良症的表型基因型特征

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy

免疫组织化学和蛋白质印迹法在诊断先天性肌营养不良症临床疑似病例中的应用

Radhika Mhatre, Deepha Sekar, Jessiena Ponmalar, Madhu Nagappa, Preethish-Kumar Veeramani, Kiran Polavarapu, Seena Vengalil, Nalini Atchayaram, Gayathri Narayanappa

Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

壳三糖苷酶是肌萎缩侧索硬化症的生物标志物,它通过神经炎症加剧脊髓运动神经元的神经退化

Anu Mary Varghese, Mausam Ghosh, Savita Kumari Bhagat, K Vijayalakshmi, Veeramani Preethish-Kumar, Seena Vengalil, Pradeep-Chandra-Reddy Chevula, Saraswati Nashi, Kiran Polavarapu, Meenakshi Sharma, Rupinder Singh Dhaliwal, Mariamma Philip, Atchayaram Nalini, Phalguni Anand Alladi, Talakad N Sathyap