Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

Autor: Judit Núñez-Manchón, Júlia Capó, Alicia Martínez-Piñeiro, Eduard Juanola, Jovan Pesovic, Laura Mosqueira-Martín, Klaudia González-Imaz, Pau Maestre-Mora, Renato Odria, Estefania Cerro-Herreros, Neia Naldaiz-Gastesi, Adolfo López de Munain, Rubén Artero, Dusanka Savic-Pavicevic, Ainara Vallejo-Illarramendi, Kamel Mamchaoui, Anne Bigot, Vincent Mouly, Mònica Suelves, Gisela Nogales-Gadea

Publikováno v: iScience, Vol 27, Iss 12, Pp 111499- (2024)

Externí odkaz: https://doaj.org/article/dfc374e49d274f9e8fc55021794bba87

Cognitive assessment in patients with myotonic dystrophy type 2

Autor: Stojan Peric, Ilija Gunjic, Neda Delic, Olivera Stojiljkovic Tamas, Biljana Salak-Djokic, Jovan Pesovic, Ivana Petrovic Djordjevic, Vukan Ivanovic, Dusanka Savic-Pavicevic, Giovanni Meola, Vidosava Rakocevic-Stojanovic

Publikováno v: Neuromuscular Disorders. 32:743-748

Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder. Previous studies conducted on small cohorts of DM2 patients indicated presence of a cognitive dysfunction. We aimed to assess cognitive functions in a larger cohort of S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d85831fc4418e18c31b7e2c7e793b3
https://doi.org/10.1016/j.nmd.2022.06.011

Clinical score for early diagnosis of myotonic dystrophy type 2

Autor: Vukan, Ivanovic, Stojan, Peric, Jovan, Pesovic, Radoje, Tubic, Ivo, Bozovic, Ivana, Petrovic Djordjevic, Dusanka, Savic-Pavicevic, Giovanni, Meola, Vidosava, Rakocevic-Stojanovic

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed.The aim of this study was to determine which symptoms, signs, and diagnosti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98c80a9eb0839c61c35ddc299615c448
https://pubmed.ncbi.nlm.nih.gov/36401657

Body composition analysis in patients with myotonic dystrophy types 1 and 2

Autor: Dusanka Savic-Pavicevic, Milena Jankovic, Tamara Svabic, Marija Branković, Stojan Peric, Vidosava Rakocevic-Stojanovic, Milorad Vujnic, Marija Banovic, Ivo Bozovic, Tanja Nisic, Ivana Basta, Jovan Pesovic

Publikováno v: Neurological Sciences. 40:1035-1040

To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98036cf17ea3f7630fddb3303788f3ff
https://doi.org/10.1007/s10072-019-03763-0

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

Autor: Miloš Brkušanin, Zorica Stevic, Stojan Peric, Irena Jeftovic-Velkova, Dusanka Savic-Pavicevic, Jovan Pesovic, M Vladimir Jovanovic, Goran Brajušković

Publikováno v: Srpski Arhiv za Celokupno Lekarstvo, Vol 146, Iss 11-12, Pp 646-652 (2018)
Srpski arhiv za celokupno lekarstvo (2018) 146(11-12):646-652
Srpski arhiv za celokupno lekarstvo

Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaec3a38d8b39dce99a472ef951f2ed5
http://www.doiserbia.nb.rs/img/doi/0370-8179/2018/0370-81791800069B.pdf