Zobrazeno 1 - 10
of 195
pro vyhledávání: '"Sabrina SACCONI"'
Autor:
Ali A. Habib, Sabrina Sacconi, Giovanni Antonini, Elena Cortés-Vicente, Julian Grosskreutz, Zabeen K. Mahuwala, Renato Mantegazza, Robert M. Pascuzzi, Kimiaki Utsugisawa, John Vissing, Tuan Vu, Heinz Wiendl, Marion Boehnlein, Bernhard Greve, Franz Woltering, Vera Bril
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 17 (2024)
Background: Muscle-specific tyrosine kinase (MuSK) autoantibody-positive (Ab+) generalised myasthenia gravis (gMG) is a rare and frequently severe subtype of gMG. Objectives: To assess the efficacy and safety of rozanolixizumab in the subgroup of pat
Externí odkaz:
https://doaj.org/article/792b9660dfe54a3fafd21ea8a7d793f5
Autor:
Mark Roberts, Jordi Diaz-Manera, Antonio Toscano, Sabrina Sacconi, Mazen M Dimachkie, Nicole Armstrong, Robert Henderson, Benedikt Schoser, Priya S Kishnani, Olivier Huynh-Ba, Nathan Thibault, Young Chul Choi, Shugo Suwazono, Paulo Victor Sgobbi de Souza, Magali Periquet
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/2e003ce4137a4384adc92d7fe85d02dc
Autor:
John Vissing, Renato Mantegazza, Sabrina Sacconi, Julian Grosskreutz, Robert M Pascuzzi, Vera Bril, Ali A Habib, Tuan Vu, Bernhard Greve, Jeremy Welton, Raphaëlle Beau Lejdstrom, Fiona Grimson, Zabeen K Mahuwala, Thaïs Tarancón
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/53c539d4025a4c2ca5ce09720ffd826a
Autor:
Angela Puma, Nicolae Grecu, Raluca Ș. Badea, Adeline Morisot, Roxana Zugravu, Mihai B. Ioncea, Michele Cavalli, Oana Lăcătuș, Andra Ezaru, Chorfa Hacina, Luisa Villa, Charles Raffaelli, Nicolas Azulay, Sabrina Sacconi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract To date, little is known about the usefulness of ultra-high frequency ultrasound (UHF-US, 50–70 MHz) in clinical practice for the diagnosis of dysimmune neuropathies. We present a prospective study aimed at comparing UHF-US alterations of
Externí odkaz:
https://doaj.org/article/14d23869b6c5464db9538beec8614e2a
Autor:
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved child
Externí odkaz:
https://doaj.org/article/b995c184e3d74c469752208af81f61fa
Autor:
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes a
Externí odkaz:
https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8
Autor:
Maria Sol Jacome Burbano, Jérôme D. Robin, Serge Bauwens, Marjorie Martin, Emma Donati, Lucia Martínez, Peipei Lin, Sabrina Sacconi, Frédérique Magdinier, Eric Gilson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-11 (2023)
Abstract Telomeric repeat binding factor 2 (TRF2) binds to telomeres and protects chromosome ends against the DNA damage response and senescence. Although the expression of TRF2 is downregulated upon cellular senescence and in various aging tissues,
Externí odkaz:
https://doaj.org/article/d600b22df10d459d9d7664b5a9e0f266
Autor:
Valeria Manera, Claudia Partos, Olivier Beauchet, Michel Benoit, Benjamin Dupetit, Julia Elbaum, Roxane Fabre, Morgane Gindt, Auriane Gros, Rachid Guerchouche, Stefan Klöppel, Alexandra König, Annick Martin, Aurélie Mouton, Marie-Pierre Pancrazi, Antonios Politis, Gabriel Robert, Guillaume Sacco, Sabrina Sacconi, Kim Sawchuk, Fabio Solari, Lucille Thiebot, Pietro Davide Trimarchi, Radia Zeghari, Philippe Robert
Publikováno v:
Internet Interventions, Vol 34, Iss , Pp 100660- (2023)
Introduction: The use of teleconsultations for mental health has drastically increased since 2020 due to the Covid19 pandemic. In the present paper, we aimed to analyze the advantages and disadvantages of teleconsultations for mental health compared
Externí odkaz:
https://doaj.org/article/9f76d7cdd2f4495f9b2aacd754897ee4
Autor:
Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopatholo
Externí odkaz:
https://doaj.org/article/898889ea615c4715b332595799961f95
Autor:
Sujatha Jagannathan, Jessica C. de Greef, Lawrence J. Hayward, Kyoko Yokomori, Davide Gabellini, Karlien Mul, Sabrina Sacconi, Jamshid Arjomand, June Kinoshita, Scott Q. Harper
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the et
Externí odkaz:
https://doaj.org/article/e1293d0484d644569819137cb3f35b3b