Svetlana Gorokhova
Inserm(FR)Aix-Marseille Université(FR)Assistance Publique Hôpitaux de Marseille(FR)Stragen (France)(FR)Hôpital de la Timone(FR)Centre de Génétique Médicale de MarseilleRockefeller University(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Missense mutations in desmin associated with familial cardiac and skeletal myopathy(1998)504 cited
- → A novel family of transmembrane proteins interacting with β subunits of the Na,K-ATPase(2007)94 cited
- → Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)(2018)60 cited
- → Novel CAPN3 variant associated with an autosomal dominant calpainopathy(2020)31 cited
- → Deep phenotyping of an international series of patients with late‐onset dysferlinopathy(2021)30 cited
- → The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions(2021)29 cited