Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia

Autor: Miloš Brkušanin, Ana Kosać, Vesna Branković-Srećković, Kristina Jovanović, Stojan Perić, Jelena Karanović, Suzana Matijašević Joković, Nemanja Garai, Jovan Pešović, Dimitrije Nikolić, Zorica Stević, Goran Brajušković, Vedrana Milić-Rašić, Dušanka Savić-Pavićević

Publikováno v: Frontiers in Neurology, Vol 15 (2024)

IntroductionBiomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant p

Externí odkaz: https://doaj.org/article/d5244b085d3f4fe8a99ea8520163f08e

Validation of the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) in a Large Cohort of Relapsing-Remitting MS Patients

Autor: Jelena Drulović, Gordana Tončev, Čongor Nadj, Dragana Obradović, Jevto Eraković, Šarlota Mesaroš, Mirjana Čukić, Dejan Aleksić, Marko Andabaka, Jovana Ivanović, Aleksa Jovanović, Marina Kostić, Gorica Marić, Aleksandar Marković, Vanja Martinović, Aleksandra Parojčić, Stojan Perić, Lorand Sakalaš, Vesna Suknjaja, Katarina Vesić, Sofija Vojvodić, Tijana Vuković, Ralph H. B. Benedict, Tatjana Pekmezović

Publikováno v: Acta Clinica Croatica, Vol 61., Iss 1., Pp 62-68 (2022)

Cognitive impairment is one of the most frequently reported symptoms in persons with multiple sclerosis (MS). The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) has been recommended as a standardized international screenin

Externí odkaz: https://doaj.org/article/ce196a8ff5714ca5bcecb2519421d674

Prospective study of quality of life in patients with myotonic dystrophy type 2

Autor: Ivo Božović, Ivana Basta, Ana Ćosić, Aleksa Palibrk, Ivana Kezić, Vukan Ivanović, Jelena Lazović, Stojan Perić

Publikováno v: Medicinska istrazivanja. 56:31-35

Introduction/aim: Although myotonic dystrophy type 2 (DM2) is generally milder than DM1, quality of life (QoL) seems to be similarly impaired in these two disorders. There are no studies that assessed QoL during DM2. Our aim was to assess QoL and dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5dc86a9421d2480b5848c403518e3c20
https://doi.org/10.5937/medi55-40874

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

Autor: Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient’s age at sampling, while

Externí odkaz: https://doaj.org/article/4dc06f157d514847a45afe769d71c597

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Autor: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

Publikováno v: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157
https://repository.uantwerpen.be/docstore/d:irua:4405