Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.

Autor: Bardakov SN; S.M. Kirov Military Medical Academy, Saint Petersburg, Russia., Deev RV; North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia.; Human Stem Cells Institute, Moscow, Russia., Isaev АА; Human Stem Cells Institute, Moscow, Russia.; Genotarget LLC, Skolkovo Innovation Centre, Moscow, Russia., Khromov-Borisov NN; Almazov National Medical Research Centre, Saint Petersburg, Russia., Kopylov ED; North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia., Savchuk МR; North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia., Pushkin MS; North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia., Presnyakov EV; North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia., Magomedova RM; Dagestan State Medical University, Makhachkala, Russia., Achmedova PG; Dagestan State Medical University, Makhachkala, Russia., Umakhanova ZR; Dagestan State Medical University, Makhachkala, Russia., Kaimonov VS; Genetico, Moscow, Russia., Musatova EV; Genetico, Moscow, Russia., Blagodatskikh KА; Genetico, Moscow, Russia., Tveleneva AА; Genetico, Moscow, Russia., Sofronova YV; Genetico, Moscow, Russia., Yakovlev IA; Human Stem Cells Institute, Moscow, Russia.; Genotarget LLC, Skolkovo Innovation Centre, Moscow, Russia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Oct; Vol. 11 (10), pp. e2236. Date of Electronic Publication: 2023 Aug 08.

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.

Autor: Bardakov SN; S.M. Kirov Military Medical Academy, St. Petersburg, Russia., Deev RV; Human Stem Cells Institute, Moscow, Russia.; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia., Magomedova RM; Dagestan State Medical Academy, Makhachkala, Russia., Umakhanova ZR; Dagestan State Medical Academy, Makhachkala, Russia., Allamand V; Sorbonne Université UPMC Paris 06 -Inserm UMRS974, Research Center in Myology, Hospital Pitié-Salpêtrière, Paris, France., Gartioux C; Sorbonne Université UPMC Paris 06 -Inserm UMRS974, Research Center in Myology, Hospital Pitié-Salpêtrière, Paris, France., Zulfugarov KZ; Dagestan State Medical Academy, Makhachkala, Russia., Akhmedova PG; Dagestan State Medical Academy, Makhachkala, Russia., Tsargush VA; S.M. Kirov Military Medical Academy, St. Petersburg, Russia., Titova AA; Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russia., Mavlikeev MO; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia., Zorin VL; Human Stem Cells Institute, Moscow, Russia., Chernets EN; I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia., Dalgatov GD; Scientific-Clinical Center of Otorhinolaryngology FMBA of Russia Moscow, Russia., Konovalov FA; Independent Clinical Bioinformatics Laboratory, Moscow, Russia., Isaev AA; Human Stem Cells Institute, Moscow, Russia.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2021; Vol. 8 (2), pp. 273-285.

Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

Autor: Umakhanova ZR; Dagestan State Medical Academy, Makhachkala, Russian Federation., Bardakov SN; S.M. Kirov Military Medical Academy, Saint Petersburg, Russian Federation., Mavlikeev MO; Kazan Federal University, Kazan, Russian Federation., Chernova ON; Kazan Federal University, Kazan, Russian Federation., Magomedova RM; Dagestan State Medical Academy, Makhachkala, Russian Federation., Akhmedova PG; Dagestan State Medical Academy, Makhachkala, Russian Federation., Yakovlev IA; Kazan Federal University, Kazan, Russian Federation.; Human Stem Cells Institute, Moscow, Russian Federation., Dalgatov GD; Human Stem Cells Institute, Moscow, Russian Federation., Fedotov VP; Voronezh Regional Clinical Hospital No.1, Voronezh, Russian Federation., Isaev AA; Human Stem Cells Institute, Moscow, Russian Federation., Deev RV; Kazan Federal University, Kazan, Russian Federation.; Human Stem Cells Institute, Moscow, Russian Federation.; Ryazan State Medical University, Ryazan, Russian Federation.

Publikováno v: Frontiers in neurology [Front Neurol] 2017 Apr 18; Vol. 8, pp. 145. Date of Electronic Publication: 2017 Apr 18 (Print Publication: 2017).