Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Autor: Koutsoulidou, Andrie, Koutalianos, Demetris, Georgiou, Kristia, Kakouri, Andrea C., Oulas, Anastasis, Tomazou, Marios, Kyriakides, Tassos C., Roos, Andreas, Papadimas, George K., Papadopoulos, Constantinos, Kararizou, Evangelia, Spyrou, George M., Zamba Papanicolaou, Eleni, Lochmüller, Hanns, Phylactou, Leonidas A.

Publikováno v: In Neuromuscular Disorders April 2022 32(4):332-346

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Genotype-phenotype correlations in valosin-containing protein disease

Autor: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group

Publikováno v: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Journal of neurology, neurosurgery and psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 93(10), 1099-1111. BMJ PUBLISHING GROUP
Journal of Neurology, Neurosurgery and Psychiatry, 93(10):328921, 1099-1111. BMJ Publishing Group

[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2d1f3b8c1678f2ecadb77fcd371913
https://hdl.handle.net/1887/3505241

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

Autor: Papadimas, George K., Pons, Roser, Palmio, Johanna

Publikováno v: Frontiers in Neurology, Vol 12 (2022)

publishedVersion Non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009e6d2099c9e972efc11ac3e00efde4
https://doi.org/10.3389/fneur.2021.835839

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Autor: Koutalianos, Demetris Koutsoulidou, Andrie Mytidou, Chrystalla and Kakouri, Andrea C. Oulas, Anastasis Tomazou, Marios and Kyriakides, Tassos C. Prokopi, Marianna Kapnisis, Konstantinos and Nikolenko, Nikoletta Turner, Chris Lusakowska, Anna and Janiszewska, Katarzyna Papadimas, George K. Papadopoulos, Constantinos Kararizou, Evangelia Spyrou, George M. Gourdon, Genevieve Papanicolaou, Eleni Zamba Gorman, Grainne and Anayiotos, Andreas Lochmueller, Hanns Phylactou, Leonidas A.

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients'

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::06e1ce8a91954a78737b2c03bf4a93d2
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3032071