Svetlana Gorokhova

Svetlana Gorokhova

Université D'Aix Marseille - Marseille / France
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 919216
Aix-Marseille University Aix-Marseille Universite
person_outline Svetlana Gorokhova's MOST POPULAR ARTICLES
1-) Missense mutations in desmin associated with familial cardiac and skeletal myopathyLG Goldfarb, KY Park, L Cervenáková, S Gorokhova, HS Lee, ...Nature genetics 19 (4), 402-403, 19985551998
2-) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalusI Ibañez-Tallon, S Gorokhova, N HeintzHuman molecular genetics 11 (6), 715-721, 20022402002
3-) A novel family of transmembrane proteins interacting with β subunits of the Na, K-ATPaseS Gorokhova, S Bibert, K Geering, N HeintzHuman molecular genetics 16 (20), 2394-2410, 2007692007
4-) Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)NC Bramswig, AM Bertoli-Avella, B Albrecht, AI Al Aqeel, A Alhashem, ...Human genetics 137, 753-768, 2018572018
5-) Novel CAPN3 variant associated with an autosomal dominant calpainopathyM Cerino, E Campana‐Salort, A Salvi, P Cintas, D Renard, ...Neuropathology and applied neurobiology 46 (6), 564-578, 2020292020