基本信息
浏览量:110
职业迁徙
个人简介
My role in TREAT-NMD , apart from being a member of the Governing Board, is to facilitate the application of the tools of TREAT-NMD to the congenital myopathies, thus integrating this group of disorders into the scope of the Network.
I have studied nemaline myopathy since 1984 and published original articles, book chapters and recommendations for the care of patients with this disorder. Together with Professor Nigel G. Laing in Perth, Australia, I have initiated the formation of the ENMC International Consortium on Nemaline Myopathy, whose research activities we co-ordinate together. The International Database on Nemaline Myopathy is located in Helsinki, while publicly available mutational databases are in Leiden (LOVD).
Similarly, I have worked on another congenital myopathy, myotubular myopathy, and co-ordinated the activities of the ENMC International Consortium on Myotubular Myopathy from 1993 to 2000.
My research group at the Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics focuses mainly on nemaline myopathy and related disorders. We are conducting our studies in close collaboration with the International Consortium, studying clinical, molecular genetic, histological and muscle developmental aspects of this group of disorders. The aim is to understand the causes and pathogenesis of this group of disorders and ultimately to pave the way for specific therapies.
I have studied nemaline myopathy since 1984 and published original articles, book chapters and recommendations for the care of patients with this disorder. Together with Professor Nigel G. Laing in Perth, Australia, I have initiated the formation of the ENMC International Consortium on Nemaline Myopathy, whose research activities we co-ordinate together. The International Database on Nemaline Myopathy is located in Helsinki, while publicly available mutational databases are in Leiden (LOVD).
Similarly, I have worked on another congenital myopathy, myotubular myopathy, and co-ordinated the activities of the ENMC International Consortium on Myotubular Myopathy from 1993 to 2000.
My research group at the Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics focuses mainly on nemaline myopathy and related disorders. We are conducting our studies in close collaboration with the International Consortium, studying clinical, molecular genetic, histological and muscle developmental aspects of this group of disorders. The aim is to understand the causes and pathogenesis of this group of disorders and ultimately to pave the way for specific therapies.
研究兴趣
论文共 655 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Vilma-Lotta Lehtokari,Lydia Sagath,Mark Davis, Desiree Ho,Kirsi Kiiski,Kaisa Kettunen, Matthew Demczko, Riki Stein,Matteo Vatta,Thomas L. Winder, Adi Shohet, Naama Orenstein,
NEUROMUSCULAR DISORDERS (2024): 32-40
引用1浏览0WOS引用
1
0
Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu,Carina Wallgren-Pettersson,Sonja Strang-Karlsson,Sinikka Hiekkala
Orphanet journal of rare diseasesno. 1 (2023): 374-374
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn