Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Genevieve Gourdon"'
Autor:
Vamsi Krishna Murthy Ginjupalli, Michael Cupelli, Jean-Baptiste Reisqs, Yvonne Sleiman, Nabil El-Sherif, Genevieve Gourdon, Jack Puymirat, Mohamed Chahine, Mohamed Boutjdir
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Introduction: Myotonic dystrophy type 1 (DM1) is a multisystemic genetic disorder caused by the increased number of CTG repeats in 3′ UTR of Dystrophia Myotonia Protein Kinase (DMPK) gene. DM1 patients experience conduction abnormalities as well as
Externí odkaz:
https://doaj.org/article/0e83e010915a4304aa31e83301e517c2
Autor:
Elisabetta Golini, Mara Rigamonti, Marcello Raspa, Ferdinando Scavizzi, Germana Falcone, Genevieve Gourdon, Silvia Mandillo
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 17 (2023)
Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disease caused by the abnormal expansion of CTG-repeats in the 3′-untranslated region of the Dystrophia Myotonica Protein Kinase (DMPK) gene, characterized by multisystemic sym
Externí odkaz:
https://doaj.org/article/cb5aa180ebb8459ebfc0f7d283fb6e4e
Autor:
Genevieve Gourdon, Giovanni Meola
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for
Externí odkaz:
https://doaj.org/article/e463e48a13174d54b1a471fc16afbfb6
Autor:
Timchenko, Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10650
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease associated with toxic RNA containing expanded CUG repeats. The developing therapeutic approaches to DM1 target mutant RNA or correct early toxic events downstream of the mutant RNA. We have p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::e3810f8c5e11e4aafb5250a2331dc8df
Autor:
Siham Ait Benichou, Dominic Jauvin, Thiéry De Serres-Bérard, Frank Bennett, Frank Rigo, Genevieve Gourdon, Mohamed Boutjdir, Mohamed Chahine, Jack Puymirat
Publikováno v:
Human gene therapy. 33(15-16)
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder that affects many organs. It is caused by the expansion of a cytosine-thymine-guanine triplet repeat in the 3' untranslated region of the human dystrophia myotonica protein kinase (h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf31b497bcda63c76dfb02d3a6a49a87
https://pubmed.ncbi.nlm.nih.gov/35794764
https://pubmed.ncbi.nlm.nih.gov/35794764
Autor:
Michael Cupelli, Vamsi Krishna Murthy Ginjupalli, Jean-Baptiste Reisqs, Yvonne Sleiman, Nabil El-Sherif, Geneviève Gourdon, Jack Puymirat, Mohamed Chahine, Mohamed Boutjdir
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 180, Iss , Pp 117562- (2024)
Background: Myotonic dystrophy type 1 (DM1) is a multiorgan disorder with significant cardiac involvement. ECG abnormalities, including arrhythmias, occur in 80 % of DM1 patients and are the second-most common cause of death after respiratory complic
Externí odkaz:
https://doaj.org/article/e711d93d90794eb9828e3a96b068756f
Autor:
Siham Ait Benichou, Dominic Jauvin, Thiéry De Serres-Bérard, Marion Pierre, Karen K. Ling, C. Frank Bennett, Frank Rigo, Genevieve Gourdon, Mohamed Chahine, Jack Puymirat
Publikováno v:
Gene therapy. 29(12)
Myotonic dystrophy, or dystrophia myotonica type 1 (DM1), is a multi-systemic disorder and is the most common adult form of muscular dystrophy. It affects not only muscles but also many organs, including the brain. Cerebral impairments include cognit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a8470e53a6cd878f0189e8ae4ce11d
https://pubmed.ncbi.nlm.nih.gov/35075265
https://pubmed.ncbi.nlm.nih.gov/35075265
Autor:
Beatrice Cardinali 1, Claudia Provenzano 1, Mariapaola Izzo 1, Jonathan Battistini 1, Georgios Strimpakos 1, Elisabetta Golini 1, Silvia Mandillo*1, Ferdinando Scavizzi 1, Marcello Raspa 1, Christine Voellenkle 2, Alessandra Perfetti 2, Denisa Baci 2, Fabio Martelli 2, Genevieve Gourdon 3, Germana Falcone 1
Publikováno v:
"Mechanistic Insights into Neurological Disorders and New Therapeutic Strategies", DSB Conference, CNR Rome, Italy, 07-08/07/2021
info:cnr-pdr/source/autori:Beatrice Cardinali 1, Claudia Provenzano 1, Mariapaola Izzo 1, Jonathan Battistini 1, Georgios Strimpakos 1, Elisabetta Golini 1, Silvia Mandillo*1, Ferdinando Scavizzi 1, Marcello Raspa 1, Christine Voellenkle 2, Alessandra Perfetti 2, Denisa Baci 2, Fabio Martelli 2, Genevieve Gourdon 3, Germana Falcone 1/congresso_nome:"Mechanistic Insights into Neurological Disorders and New Therapeutic Strategies"/congresso_luogo:DSB Conference, CNR Rome, Italy/congresso_data:07-08%2F07%2F2021/anno:2021/pagina_da:/pagina_a:/intervallo_pagine
info:cnr-pdr/source/autori:Beatrice Cardinali 1, Claudia Provenzano 1, Mariapaola Izzo 1, Jonathan Battistini 1, Georgios Strimpakos 1, Elisabetta Golini 1, Silvia Mandillo*1, Ferdinando Scavizzi 1, Marcello Raspa 1, Christine Voellenkle 2, Alessandra Perfetti 2, Denisa Baci 2, Fabio Martelli 2, Genevieve Gourdon 3, Germana Falcone 1/congresso_nome:"Mechanistic Insights into Neurological Disorders and New Therapeutic Strategies"/congresso_luogo:DSB Conference, CNR Rome, Italy/congresso_data:07-08%2F07%2F2021/anno:2021/pagina_da:/pagina_a:/intervallo_pagine
Background: Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disease caused by the abnormal expansion of CTG-triplets in the 3' untranslated region of the DMPK gene. While therapeutic approaches that neutralize the toxic DMPK t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::01b75d694032588d55600578e19c1ada
https://publications.cnr.it/doc/458133
https://publications.cnr.it/doc/458133
Autor:
Diana M. Dincã, Louison Lallemant, Anchel González-Barriga, Noémie Cresto, Sandra O. Braz, Géraldine Sicot, Laure-Elise Pillet, Hélène Polvèche, Paul Magneron, Aline Huguet-Lachon, Hélène Benyamine, Cuauhtli N. Azotla-Vilchis, Luis E. Agonizantes-Juárez, Julie Tahraoui-Boris, Cécile Martinat, Oscar Hernández-Hernández, Didier Auboeuf, Nathalie Rouach, Cyril F. Bourgeois, Geneviève Gourdon, Mário Gomes-Pereira
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Myotonic dystrophy type 1 (DM1) is characterized by debilitating neurological symptoms. Dinca et al. demonstrate the pronounced impact of DM1 on the morphology and RNA metabolism of astrocytes. Their findings suggest astroglial pathology in DM1 brain
Externí odkaz:
https://doaj.org/article/b8326071658541fb95db0b3ac8971f3d
Autor:
Beatrice Cardinali, Claudia Provenzano, Mariapaola Izzo, Christine Voellenkle, Jonathan Battistini, Georgios Strimpakos, Elisabetta Golini, Silvia Mandillo, Ferdinando Scavizzi, Marcello Raspa, Alessandra Perfetti, Denisa Baci, Dejan Lazarevic, Jose Manuel Garcia-Manteiga, Geneviève Gourdon, Fabio Martelli, Germana Falcone
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 184-199 (2022)
CRISPR/Cas9-mediated therapeutic gene editing is a promising technology for durable treatment of incurable monogenic diseases such as myotonic dystrophies. Gene-editing approaches have been recently applied to in vitro and in vivo models of myotonic
Externí odkaz:
https://doaj.org/article/5d433c05d99644d685e8e224594c7bdb