| Назив: | Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models |
Аутори : | Tedesco, Barbara; Perić, Stojan ; ...; Rakočević-Stojanović, Vidosava ; Milenković, Sanja ; ...; Ivanović, Vukan ; ...; (broj koautora 23) |
Година: | 2025 |
Публикација: | European journal of human genetics |
ISSN: | 1018-4813 European Journal of Human Genetics Претражи идентификатор |
Издавач: | London : Nature Publishing Group |
Тип резултата: | Научни чланак |
Колација: | vol. 33 br. 8 str. 1015-1024 |
DOI: | 10.1038/s41431-025-01868-z |
WoS-ID: | 001502005600001 |
Scopus-ID: | 2-s2.0-105007229686 |
PMID: | 40467930 |
PMCID: | PMC12322164 |
URI: | https://enauka.gov.rs/handle/123456789/985821 |
URL: | https://www.nature.com/articles/s41431-025-01868-z |
Пројекат: | Sanofi Genzyme Ultragenyx LGMD2I Research Fund Samantha J Brazzo Foundation LGMD2D Foundation Kurt+Peter Foundation Muscular Dystrophy UK Coalition to Cure Calpain 3 National Human Genome Research Institute [R01 HG009141] National Eye Institute National Heart, Lung and Blood Institute [UM1 HG008900] Ministry of Science of the Republic of Serbia [175083] Fondazione Telethon, Italy [GGP19128] Fondazione Italiana per la ricercasulla Sclerosi Laterale Amiotrofica (AriSLA), Italy Association Francaise contre les Myopathies (AFM Telethon), France [23236] Italian Ministry of University and Research (MIUR) [2017F2A2C5, 2022EFLFL8] European Union-Next Generation EU [CN00000041, CUPB93D21010860004] Progetto Dipartimenti di Eccellenza Universita degli Studi di Milano Agenzia Italiana del Farmaco (AIFA) National Institute Of Arthritis And Musculoskeletal And Skin Diseases of the National Institutes of Health [R21AR080407] UCL/UCLH Biomedicine NIHR, UK University of Antwerp (TOP-BOF) [38694, 41667] Flanders Fund for Scientific Research (FWO-Flanders) [G040821N] Solve-RD [779257] |
Извор метаподатака: | (Preuzeto iz Nasi u WoS) |
М-категорија: | 21M21 - Водећи међународни часопис категорије M21 |