Zobrazeno 1 - 10
of 37
pro vyhledávání: '"FSHD2"'
Autor:
Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targete
Externí odkaz:
https://doaj.org/article/1d253328860746cc93b723944ebbca3c
Akademický článek
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Publikováno v:
Genes
Genes, MDPI, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩
Genes, Vol 11, Iss 3, p 258 (2020)
Genes, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩
Genes, MDPI, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩
Genes, Vol 11, Iss 3, p 258 (2020)
Genes, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩
International audience; Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c078d305e5045561d097c94d2691a52
https://hal-amu.archives-ouvertes.fr/hal-02503971
https://hal-amu.archives-ouvertes.fr/hal-02503971
Autor:
Marc Jeanpierre, Anthony Behin, Richard J.L.F. Lemmers, Tanya Stojkovic, Françoise Bouhour, Audrey Briand-Suleau, Pilvi Nigumann, Françoise Chapon, Christophe Vial, Angela Puma, Sophie Rondeau, Pascal Laforêt, Marilyn Gros, Bruno Eymard, Nadira Lagha, Bras Marc, Elena Pegoraro, Silvère M. van der Maarel, Andoni Echaniz-Laguna, Michelangelo Cao, Philippe Petiot, Sabrina Sacconi, C. Cambieri, Gaël Cristofari, Christian Baudoin, Leonardo Salviati
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 92(19), E2273-E2285. LIPPINCOTT WILLIAMS & WILKINS
Neurology, American Academy of Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 2019, 92 (19), pp.e2273-e2285. ⟨10.1212/WNL.0000000000007456⟩
Neurology, 92(19), E2273-E2285. LIPPINCOTT WILLIAMS & WILKINS
ObjectiveTo compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1.MethodsThis is a national mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9e0a58dc0c1c5ca6e2e9bf54dbe1ed
https://hal-normandie-univ.archives-ouvertes.fr/hal-02305410
https://hal-normandie-univ.archives-ouvertes.fr/hal-02305410
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 dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
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 dInvestigació 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
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1395
Autor:
Christophe Béroud, Celine Guien, Benoît Sanson, Sitraka Rabarimeriarijaona, Sabrina Sacconi, Katia Nehal, Pauline Lahaut, Rafaëlle Bernard, Gaëlle Blandin, Nicolas Lévy
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Background Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2fc38ab77f5c53456f9b98cb7c9978
https://hal-amu.archives-ouvertes.fr/hal-01984873/document
https://hal-amu.archives-ouvertes.fr/hal-01984873/document
Akademický článek
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Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral numbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2be00c5f7617055c8e115f6f1aeab5
https://www.sciencedirect.com/science/article/pii/S0960896616300876
https://www.sciencedirect.com/science/article/pii/S0960896616300876
Akademický článek
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Akademický článek
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