Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Sylvie Tuffery"'
Autor:
Chiara Passarelli, Rita Selvatici, Alberto Carrieri, Francesca Romana Di Raimo, Maria Sofia Falzarano, Fernanda Fortunato, Rachele Rossi, Volker Straub, Katie Bushby, Mojgan Reza, Irina Zharaieva, Adele D’Amico, Enrico Bertini, Luciano Merlini, Patrizia Sabatelli, Paola Borgiani, Giuseppe Novelli, Sonia Messina, Marika Pane, Eugenio Mercuri, Mireille Claustres, Sylvie Tuffery-Giraud, Annemieke Aartsma-Rus, Pietro Spitali, Peter A. C. T’Hoen, Hanns Lochmüller, Kristin Strandberg, Cristina Al-Khalili, Ekaterina Kotelnikova, Michael Lebowitz, Elena Schwartz, Francesco Muntoni, Chiara Scapoli, Alessandra Ferlini
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundDuchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with corticosteroids (CS). In order
Externí odkaz:
https://doaj.org/article/b81fc57f071f44379d499b268e34d2eb
Autor:
Caroline Ovaert, Sylvie Tuffery-Giraud, Sarah Leonard-Louis, Anthony Béhin, Sophie Guillaumont, Maximilien Sochala, Emmanuelle Campana-Salort, Frédérique Audic, Michèle Mayer, Damien Bonnet, Raul Juntas Morales, Mireille Cossée, Isabelle Desguerre, Christophe Meune, Pascal Laforêt, Rabah Ben Yaou, Brigitte Chabrol, Djillali Annane, David Orlikowski, François Godart, Malika Saadi, Helge Amthor, Tanya Stojkovic, Ulrike Walther-Louvier, Frédéric Lofaso, Pascal Amedro, Raphaël Porcher, Céline Tard, Claire Delcourte, Vincent Tiffreau, Karim Wahbi, Christine Barnerias, Guillaume Bassez, Bertrand Fontaine, Arnaud Isapof, Gregoire De La Villeon, Guy Vaksmann, François Rivier, Denis Duboc, Henri Marc Bécane, Philippe Ravaud, Hélène Prigent, Emmanuelle Jaillette, Abdallah Fayssoil, Bruno Eymard
Publikováno v:
European Heart Journal
European Heart Journal, Oxford University Press (OUP): Policy B, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, Oxford University Press (OUP): Policy B, 2021, ⟨10.1093/eurheartj/ehab054⟩
European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩
Aims To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD). Methods and results We analysed the data from the French multicentre DMD Heart Registry (ClinicalTrials.gov:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84a4eeaae527cf105631ef315b278f7
https://doi.org/10.1093/eurheartj/ehab054
https://doi.org/10.1093/eurheartj/ehab054
Autor:
Robert B. Weiss, Francesco Muntoni, Ann Martin, Alessandra Ferlini, Karin K Lucas, Megan A. Waldrop, Rabah Ben Yaou, Kevin M. Flanigan, Erin O'Rourke, Sylvie Tuffery-Giraud, Filnemus
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2020, 7 (3), pp.217-229. ⟨10.3233/JND-200483⟩
Journal of Neuromuscular Diseases, 2020, 7 (3), pp.217-229. ⟨10.3233/JND-200483⟩
Background Eteplirsen, the first FDA-approved RNA-modifying therapy for DMD, is applicable to ∼13% of patients with DMD. Because multiple exonic deletions are amenable to exon 51 skipping, the isoforms resulting from the various exon 51-skipped tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e615b9054c3fbc9e67d67d5228256979
https://doi.org/10.3233/jnd-200483
https://doi.org/10.3233/jnd-200483
Autor:
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie-Claire Vincent
Publikováno v:
Brain : a journal of neurology. 145(11)
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12ae48c323309fe64e18d4bba23c3af0
https://pubmed.ncbi.nlm.nih.gov/35883251
https://pubmed.ncbi.nlm.nih.gov/35883251
Autor:
Cristina Skrypnyk, Abubaker Al Madani, Mohammed Jan, André Mégarbané, Khalid Al Thihli, Ali Al Shehri, Abdulaziz Al Saman, Mohammad Al Muhaizea, Waseem Fathalla, Andoni Urtizberea, Gholamreza Zamani, Sylvie Tuffery-Giraud, Carlos Ignacio Ortez González, Pawan Kashyape, Ahmed Al Rumayyan, Edward Cupler, Laila Bastaki, Mohammed Al Jumah, Gururaj Aithala Kodavooru
Publikováno v:
Neurodegenerative Disease Management
Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to addr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2083e73b42e1499b6778e9dd983e38a
https://doi.org/10.2217/nmt-2019-0002
https://doi.org/10.2217/nmt-2019-0002
Autor:
Mireille Claustres, Anne-Laure Bougé, Michel Koenig, Dylan Da Cunha, Julie Miro, Emmanuelle Beyne, Eva M. Murauer, Sylvie Tuffery-Giraud
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2020, 21 (20), pp.7803. ⟨10.3390/ijms21207803⟩
International Journal of Molecular Sciences, Vol 21, Iss 7803, p 7803 (2020)
Volume 21
Issue 20
International Journal of Molecular Sciences, MDPI, 2020, 21 (20), pp.7803. ⟨10.3390/ijms21207803⟩
International Journal of Molecular Sciences, Vol 21, Iss 7803, p 7803 (2020)
Volume 21
Issue 20
International audience; The Duchenne muscular dystrophy (DMD) gene has a complex expression pattern regulated by multiple tissue-specific promoters and by alternative splicing (AS) of the resulting transcripts. Here, we used an RNAi-based approach co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951509ceb8d15f49c6472493a8a42079
https://pubmed.ncbi.nlm.nih.gov/33096920
https://pubmed.ncbi.nlm.nih.gov/33096920
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2017, 136 (9), pp.1155--1172. ⟨10.1007/s00439-017-1820-9⟩
Human Genetics, Springer Verlag, 2017, 136 (9), pp.1155--1172. ⟨10.1007/s00439-017-1820-9⟩
International audience; Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression controlled by multiple post- and co-transcriptional mechanisms. The large Duchenne muscular dystrophy gene encoding the protein dystrophin pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0f30119920e1ffa5af1a38523265a9f
https://doi.org/10.1007/s00439-017-1820-9
https://doi.org/10.1007/s00439-017-1820-9
Autor:
Annemieke Aartsma-Rus, Madhuri Hegde, Tawfeg Ben-Omran, Filippo Buccella, Alessandra Ferlini, Pia Gallano, R. Rodney Howell, France Leturcq, Ann S. Martin, Anna Potulska-Chromik, Jonas A. Saute, Wolfgang M. Schmidt, Thomas Sejersen, Sylvie Tuffery-Giraud, Zehra Oya Uyguner, Luci A. Witcomb, Shu Yau, Stanley F. Nelson
Publikováno v:
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2019, 204, pp.305-313.e14. ⟨10.1016/j.jpeds.2018.10.043⟩
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Journal of Pediatrics, Elsevier, 2019, 204, pp.305-313.e14. ⟨10.1016/j.jpeds.2018.10.043⟩
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34789550f2a27b968df8244c69849ac5
http://hdl.handle.net/11392/2408102
http://hdl.handle.net/11392/2408102
Autor:
Sylvie Tuffery-Giraud, Michel Koenig, Raul Juntas Morales, David Baux, Charles Van Goethem, Mireille Cossée, Charly Mathieu, Vilma-Lotta Lehtokari, Kevin Yauy, Gisèle Bonne, Martin Krahn, Thomas Guignard, Delphine Lacourt, Henri Pegeot
Publikováno v:
Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2018, 20 (4), pp.465-473. ⟨10.1016/j.jmoldx.2018.03.009⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2018, 20 (4), pp.465-473. ⟨10.1016/j.jmoldx.2018.03.009⟩
International audience; Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e375c98fd66a0d6b10c37310faf1dc
https://hal-amu.archives-ouvertes.fr/hal-01991354
https://hal-amu.archives-ouvertes.fr/hal-01991354
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3
Autor:
Xinsheng Wang, Xiaoling Wang, Feifei Zhang, Sylvie Tuffery-Giraud, Jian Yao, Irene Bottillo, Xiangzhong Zhao, Yanhua Lang, Leping Shao
Publikováno v:
American Journal of Nephrology. 42:78-84
Background: Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. Methods: A Chinese child w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53b6d4c83c8fafbb930fbcf6a5e597b4
https://doi.org/10.1159/000439232
https://doi.org/10.1159/000439232