Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Fabrizia, Bignami"'
Autor:
Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard, Odile Boespflug-Tanguy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background X-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. Childhood Cerebra
Externí odkaz:
https://doaj.org/article/1e243f7953fe490cb442d887c0049fbe
Autor:
Caroline Sevin, Gaëlle Thomas, Elise Saunier Vivar, Elise Yazbeck, Hélène Rochereuil, Fabrizia Bignami, Aurore Clément, Marieke Podevin
Publikováno v:
Rare Disease and Orphan Drugs Journal. 2:17
Aim: This research assessed the needs of family caregivers of children with cerebral adrenoleukodystrophy (cALD), focusing on the diagnostic process; the burden of the disease on the child and their caregiver’s quality of life; and the physical, so
Autor:
Frida Rivière, Jordi Llinares-Garcia, Guillaume Vaquer, Kerstin Westermark, Bruno Sepodes, Fabrizia Bignami, Maria Mavris
Publikováno v:
Nature Reviews Drug Discovery. 12:287-305
Animal models are important tools in the discovery and development of treatments for rare diseases, particularly given the small populations of patients in which to evaluate therapeutic candidates. Here, we provide a compilation of mammalian animal m
Publikováno v:
Pharmaceuticals, Policy and Law. 13:169-176
Patients’ organisations call for an assessment of the clinical added value of orphan drugs at the time of the marketing authorisation evaluation. The European Commission has commissioned Ernst & Young to explore the feasibility of a new Committee a
Autor:
Mirella Filocamo, Alessandra Renieri, Corrado Angelini, Marina Mora, Peter Schneiderat, Luisa Politano, Stefano Goldwurm, Stephen Lynn, Anne Mary Bodin, Safaa Saker, Yann Lecam, Monica Ensini, David Gurwitz, Hanns Lochmüller, Marco Crimi, Mojgan Reza, Veronika Karcagi, Lucia Monaco, Elena Pegoraro, Alex E. Felice, Kurt Zatloukal, Franca Dagna Bricarelli, C. Baldo, Fabrizia Bignami, Diana Johnson, Maurizio Moggio, Jack Puymirat, Manuel Posada de la Paz, Cécile Jaeger, Giuseppe Merla, Thomas Voit, Francesco Muntoni, Barbara Garavaglia, Jeanne Hélène di Donato, Marija Meznaric
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
European Journal of Human Genetics, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71dc068e24d51e59b10ee01a65fa842b
https://hal.science/hal-02881007/document
https://hal.science/hal-02881007/document
Autor:
Jean Cartaud, Lise Bailly, Sophie Marchand, Gilles Camus, Françoise Stetzkowski-Marden, Fabrizia Bignami
Publikováno v:
Journal of Physiology-Paris. 92:177-181
In this study we have investigated the intracellular routing of two major components of the postsynaptic membrane in Torpedo electrocytes, the nicotinic acetylcholine receptor and the extrinsic 43 kDa protein rapsyn, and of a protein from the non-inn
Autor:
Kerstin, Westermark, Birthe Byskov, Holm, Mirjam, Söderholm, Jordi, Llinares-Garcia, Frida, Rivière, Stiina, Aarum, Florence, Butlen-Ducuing, Stelios, Tsigkos, Agnieszka, Wilk-Kachlicka, Cinzia, N'Diamoi, János, Borvendég, David, Lyons, Bruno, Sepodes, Brigitte, Bloechl-Daum, André, Lhoir, Mariana, Todorova, Ioannis, Kkolos, Kateřina, Kubáčková, Heidrun, Bosch-Traberg, Vallo, Tillmann, Veijo, Saano, Emmanuel, Héron, Rembert, Elbers, Miranda, Siouti, Judit, Eggenhofer, Patrick, Salmon, Maurizio, Clementi, Dainis, Krieviņš, Aušra, Matulevičiene, Henri, Metz, Albert Cilia, Vincenti, Albertha, Voordouw, Bożenna, Dembowska-Bagińska, Ana Corrêa, Nunes, Flavia Mirela, Saleh, Tatiana, Foltánová, Martin, Možina, Josep, Torrent i Farnell, Björn, Beerman, Segundo, Mariz, Marie Pauline, Evers, Lesley, Greene, Sigurdur, Thorsteinsson, Lars, Gramstad, Maria, Mavris, Fabrizia, Bignami, Annie, Lorence, Chantal, Belorgey
Publikováno v:
Nature reviews. Drug discovery. 10(5)
In 2000, regulation on orphan medicinal products was adopted in the European Union with the aim of benefiting patients who suffer from serious, rare conditions for which there is currently no satisfactory treatment. Since then, more than 850 orphan d
Autor:
Christian K, Schneider, Paula, Salmikangas, Bernd, Jilma, Bruno, Flamion, Lyubina Racheva, Todorova, Anna, Paphitou, Ivana, Haunerova, Toivo, Maimets, Jean-Hugues, Trouvin, Egbert, Flory, Asterios, Tsiftsoglou, Balázs, Sarkadi, Kolbeinn, Gudmundsson, Maura, O'Donovan, Giovanni, Migliaccio, Jānis, Ancāns, Romaldas, Maciulaitis, Jean-Louis, Robert, Anthony, Samuel, Johannes H, Ovelgönne, Marit, Hystad, Andrzej Mariusz, Fal, Beatriz Silva, Lima, Anca Stela, Moraru, Peter, Turcáni, Robert, Zorec, Sol, Ruiz, Lennart, Akerblom, Gopalan, Narayanan, Alastair, Kent, Fabrizia, Bignami, J George, Dickson, Dietger, Niederwieser, María-Angeles, Figuerola-Santos, Ilona G, Reischl, Claire, Beuneu, Rosen, Georgiev, Maria, Vassiliou, Alena, Pychova, Mette, Clausen, Taina, Methuen, Sophie, Lucas, Martina, Schüssler-Lenz, Vasilios, Kokkas, Zsuzsanna, Buzás, Niall, MacAleenan, Maria Cristina, Galli, Aija, Linē, Jolanta, Gulbinovic, Guy, Berchem, Mariusz, Fraczek, Margarida, Menezes-Ferreira, Nela, Vilceanu, Mikulás, Hrubisko, Petra, Marinko, Marcos, Timón, Wing, Cheng, George Andrew, Crosbie, Nick, Meade, Michelino Lipucci, di Paola, Thierry, VandenDriessche, Per, Ljungman, Lucia, D'Apote, Olga, Oliver-Diaz, Isabel, Büttel, Patrick, Celis
Publikováno v:
Nature reviews. Drug discovery. 9(3)
Advanced therapy medicinal products (ATMPs), which include gene therapy medicinal products, somatic cell therapy medicinal products and tissue-engineered products, are at the cutting edge of innovation and offer a major hope for various diseases for
Rapsyn, a 43 kDa protein required to cluster nicotinic acetylcholine receptors (AChRs) at the neuromuscular junction, is tightly associated with the postsynaptic membrane via an N-terminal myristoylated site. Recent studies have shown that some acyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a25e93b706f6fec8c77551f48040c3
https://europepmc.org/articles/PMC6772431/
https://europepmc.org/articles/PMC6772431/
Publikováno v:
Molecular and cellular neurosciences. 13(1)
Tyrosine phosphorylation is thought to play a critical role in the clustering of acetylcholine receptors (AChR) at the developing neuromuscular junction. Yet, in vitro approaches have led to conflicting conclusions regarding the function of tyrosine