Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Autor: Simonetta Gerevini, Mauro Monforte, M. Gros, Sabrina Sacconi, Giancarlo Deidda, Jordi Díaz-Manera, Enzo Ricci, Lara Cristiano, Volker Straub, G. Giacomucci, C. Marini Bettolo, Giorgio Tasca, Lorenzo Maggi, B.G.M. van Engelen, Emiliano Giardina, Jana Haberlová, Pilar Camaño, Tommaso Tartaglione, Karlien Mul, John Vissing, Julia R. Dahlqvist, Patrizia Calandra, R. Fernandez Torron

Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
European Journal of Neurology, 27, 12, pp. 2604-2615
European Journal of Neurology, 27, 2604-2615
European journal of neurology
27 (2020): 2604–2615. doi:10.1111/ene.14446
info:cnr-pdr/source/autori:Giacomucci G.; Monforte M.; Diaz-Manera J.; Mul K.; Fernandez Torron R.; Maggi L.; Marini Bettolo C.; Dahlqvist J.R.; Haberlova J.; Camano P.; Gros M.; Tartaglione T.; Cristiano L.; Gerevini S.; Calandra P.; Deidda G.; Giardina E.; Sacconi S.; Straub V.; Vissing J.; Van Engelen B.; Ricci E.; Tasca G./titolo:Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging/doi:10.1111%2Fene.14446/rivista:European journal of neurology (Print)/anno:2020/pagina_da:2604/pagina_a:2615/intervallo_pagine:2604–2615/volume:27
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

Contains fulltext : 229735.pdf (Publisher’s version ) (Closed access) BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd3c2e3f2b11e46918d5d5dca3e6a399
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1395

EuroPhenome: a repository for high-throughput mouse phenotyping data

Autor: Karen B Avraham, Ramiro Ramirez-Solis, Michel Roux, Paul Potter, Vassilis Aidinis, Rudi Balling, Annemarie Zimprich, Andrew Blake, Pierre Dubus, FATIMA BOSCH, Ann-Marie Mallon, Paul Denny, Daniela Marazziti, CECILIA MANNIRONI, RAFAELE MATTEONI, Holger Maier, Jan Rozman, Marc Le Bert, Werner Muller, Martin Klingenspor, Daniela Vogt Weisenhorn, Elizabeth Cartwright, Nadia Rosenthal, Christine Podrini, David Richardson, Marcello Raspa, Lore Becker, Tura Ferre, John Hancock, Tim Beck, Markus W. Ollert, Natasha Karp, Eckhard Wolf, Sylvie Franckhauser, Ian Jackson, GIUSEPPEDOMENICO TOCCHINIVALENTINI, Liliane Michalik, Veronique Brault, Jean Louis Mandel, Martin Hrabe de Angelis, CHIARA DI PIETRO, ELENI DOUNI, Sabine Hölter-Koch, SOPHIA DJEBALI, Lydia Teboul, Amiel Dror, SABRINA PUTTI, JESUS RUBERTE, Wolfgang Wurst, Yann Herault, Lillian Garrett, Sukhpal Prehar, Jacqueline Marvel, Beatrice Desvergne, Silvia Mandillo, GIANCARLO DEIDDA

Publikováno v: Nucleic acids research 38 (2010): D577–D585. doi:10.1093/nar/gkp1007
info:cnr-pdr/source/autori:Morgan H; Beck T; Blake A; Gates H; Adams N; Debouzy G; Leblanc S; Lengger C; Maier H; Melvin D; Meziane H; Richardson D; Wells S; White J; Wood J; The EUMODIC Consortium; de Angelis MH; Brown SD; Hancock JM; Mallon AM./titolo:EuroPhenome: a repository for high-throughput mouse phenotyping data/doi:10.1093%2Fnar%2Fgkp1007/rivista:Nucleic acids research/anno:2010/pagina_da:D577/pagina_a:D585/intervallo_pagine:D577–D585/volume:38
Nucleic Acids Research
Nucleic Acids Res. 38, 1, D577-D585 (2010)
Morgan, H, Beck, T, Blake, A, Gates, H, Adams, N, Debouzy, G, Leblanc, S, Lengger, C, Maier, H, Melvin, D, Meziane, H, Richardson, D, Wells, S, White, J, Wood, J, De Angelis, M H, Brown, S D M, Hancock, J M, Mallon, A M, Neyses, L, Cartwright, E, Prehar, S, Zi, M & Muller, W 2009, ' EuroPhenome: A repository for high-throughput mouse phenotyping data ', Nucleic acids research., vol. 38, no. 1, pp. D577-D585 . https://doi.org/10.1093/nar/gkp1007
D585
D577

The broad aim of biomedical science in the postgenomic era is to link genomic and phenotype information to allow deeper understanding of the processes leading from genomic changes to altered phenotype and disease. The EuroPhenome project (http://www.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b704c4cc9e74669375313eda984abfcf

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

Autor: Fabiola Moretti, Roberta Morosetti, Sabrina Sacconi, Enzo Ricci, Isabella Cascino, Marsha Pellegrino, Giancarlo Deidda, Giorgio Tasca, Giuliana Galluzzi, Marco Crescenzi, Alfredo Pontecorvi, Emanuela Teveroni, Angela Puma, Matteo Garibaldi, Carlo P. Trevisan, Stefano Farioli-Vecchioli, Patrizia Calandra

Publikováno v: The Journal of clinical investigation (2017). doi:10.1172/JCI89401
info:cnr-pdr/source/autori:Teveroni, Emanuela; Pellegrino, Marsha; Sacconi, Sabrina; Calandra, Patrizia; Cascino, Isabella; Farioli-Vecchioli, Stefano; Puma, Angela; Garibaldi, Matteo; Morosetti, Roberta; Tasca, Giorgio; Ricci, Enzo; Trevisan, Carlo Pietro; Galluzzi, Giuliana; Pontecorvi, Alfredo; Crescenzi, Marco; Deidda, Giancarlo; Moretti, Fabiola/titolo:Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity./doi:10.1172%2FJCI89401/rivista:The Journal of clinical investigation/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asympto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a616d11d1f1597c389f2467506c1d7da
https://pubmed.ncbi.nlm.nih.gov/28263188

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

Autor: S.M. van der Maarel, Jane E. Hewitt, R.J.L.F. Lemmers, George W. Padberg, Giancarlo Deidda, R.R. Frants, S. van Koningsbruggen, Tonnie Rijkers, M. van Geel, D. Figlewicz, J.C.T. van Deutekom

Publikováno v: Journal of Medical Genetics, 41, 826-36
Journal of Medical Genetics, 41, 11, pp. 826-36

Contains fulltext : 58455.pdf (Publisher’s version ) (Closed access) BACKGROUND: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome 4qter. This ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b04b875094764236a6093c0ca3204e
https://doi.org/10.1136/jmg.2004.019364

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

Autor: George W. Padberg, Lodewijk A. Sandkuijl, Silvère M. van der Maarel, Richard J F L Lemmers, Rune R. Frants, Petra G.M. van Overveld, Giancarlo Deidda

Publikováno v: Human Molecular Genetics. 9:2879-2884

Chromosomal rearrangements occur more frequently in subtelomeric domains than in other regions of the genome and are often associated with human pathology. To further elucidate the plasticity of subtelomeric domains, we examined the 3.3 kb D4Z4 repea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2356c9aed48b3ec4bbca58fd0d9a3cab
https://doi.org/10.1093/hmg/9.19.2879