基本信息
浏览量:74
职业迁徙
个人简介
My scientific work has been built in parallel with my clinical activities as a neurologist and histopathologist in the field of rare neuromuscular diseases. I have mainly developed research on congenital myopathies and metabolic myopathies which are two groups of genetic diseases of growing interest for two main reasons: 1) the understanding of their physiopathological mechanisms allows to improve the scientific knowledge of muscle physiology, and 2) several therapeutic possibilities are opening up, acting either on enzymatic activities or through gene therapy approaches.
My research has been possible thanks to the numerous cohorts of patients and notably muscle biopsies with rare congenital and metabolic myopathies that I have contributed to the study and discovery of new muscle diseases. Two categories of myopathies are the subject of my studies: metabolic myopathies, in particular muscle glycogenosis, and congenital myopathies. In recent years, I have been involved in the discovery of nine new genes and phenotypes of congenital myopathies (LMOD3, MYO18B, MYPN, PYRODXD1, ZAK, DHPR1, STAC3, ACTN2) and muscle glycogenosis (glycogenin 1, GYG1, myopathy with polyglucosan).
In addition, I have contributed to the fine muscle morphological characterization of different forms of early myopathies contributing to the understanding of pathological mechanisms. In this respect, I have used a systematic integrated approach including deep clinical phenotyping, optical microscopy and ultracructural analysis. Thanks to my postdoc/mobility and a close collaboration with the Swedish group of Prof. A. Odfors, I collected a cohort of patients with muscle glycogenosis with polyglucosan bodies and identified the glycogenin-1 gene.
Furthermore, I focused on muscle electron microscopy analysis to detect pathomechanisms causing muscle weakness in congenital myopathies. With this respect, I established a collaboration with Prof. Coren Ottenhjim at the VU University of Amsterdam for the study of contractility in single fiber muscle biopsies of patients with congenital myopathies. The results showed that reduced nebulin myopathies and ACTA1-related nemaline myopathies are associated with the brevity of fine filaments. In contrast, other nemaline myopathies do not exhibit these characteristics. We also studied another case of congenital myopathy that shows a high prevalence in the Netherlands due to a founder effect. These are the nemaline myopathies related to dominant mutation in KBTBD13 or NEM6. Muscle biopsies from this patient show no alteration in contractility but the alteration seems to reside in the binding with alpha actin. My future research work will be devoted to ameliorate the knowledges in muscle histopathology and to apply the technique of histopathology to discover and validate disease markers before and after new therapeutic approaches such as gene therapy, antisense oligonucleotides or small molecules. In particular, I will intensify my studies for the translational application to patients of new pharmacological therapies for ultra-congenital myopathies. On the clinical side, I broaden my field of interest to other muscular dystrophies such as Calpain 3 CAPN3 deficiency and FSHD1 muscular dystrophy. By participating in various grant applications, I also wish to contribute to the development of new treatments, thanks to the national and international collaborations I have developed over the last few years with several research groups specialized in the field of neuromuscular diseases.
研究兴趣
论文共 258 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
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGYno. 1 (2024): e12952-e12952
Emmanuelle Salort-Campana,Guilhem Solé,Armelle Magot,Céline Tard,Jean-Baptiste Noury,Anthony Behin,Elisa De La Cruz,François Boyer,Claire Lefeuvre,Marion Masingue, Louise Debergé, Armelle Finet,
Orphanet Journal of Rare Diseasesno. 1 (2024): 24-24
JOURNAL OF CLINICAL INVESTIGATIONno. 3 (2024)
JOURNAL OF NEUROLOGY (2024)
Julian Theuriet,Marion Masingue,Anthony Behin,Ana Ferreiro,Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer,Antoine Pegat,Françoise Bouhour,Juliette Svahn,Philippe Petiot,
Brain : a journal of neurology (2024)
BIOMEDICINESno. 2 (2024): 322
Joshua S. Clayton,Christina Vo, Jordan Crane,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti, Norma B. Romero,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor
Stem Cell Research (2024): 103491-103491
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