Zobrazeno 1 - 10
of 651
pro vyhledávání: '"G Claeys"'
Autor:
Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Agnieszka Kopiec, Fred Holdbrook, Simon Shohet, Antonio Toscano, on behalf of the PROPEL Study Group
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-9 (2024)
Abstract Background Late-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients’ day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipagluco
Externí odkaz:
https://doaj.org/article/6c94129535e0439fa3e890c6a89ede54
Autor:
Bram De Wel, Lotte Huysmans, Ronald Peeters, Stefan Ghysels, Kris Byloos, Guido Putzeys, Frederik Maes, Patrick Dupont, Kristl G. Claeys
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 5, Pp 1761-1771 (2024)
Abstract Background We investigated the potential of magnetic resonance elastography (MRE) stiffness measurements in skeletal muscles as an outcome measure, by determining its test–retest reliability, as well as its sensitivity to change in a longi
Externí odkaz:
https://doaj.org/article/d3395bb9e44948d2a3f94001e19c3c5f
Autor:
Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of interventions. Studi
Externí odkaz:
https://doaj.org/article/038589708d914771b4227aa70fd5c9b8
Autor:
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impac
Externí odkaz:
https://doaj.org/article/50645335f24240a3b4537c13391b28b5
Autor:
Bram De Wel, Lotte Huysmans, Christophe E. Depuydt, Veerle Goosens, Ronald Peeters, Filipa P. Santos, Dietmar R. Thal, Patrick Dupont, Frederik Maes, Kristl G. Claeys
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 3, Pp 1468-1481 (2023)
Abstract Background Despite the widespread use of proton density fat fraction (PDFF) measurements with magnetic resonance imaging (MRI) to track disease progression in muscle disorders, it is still unclear how these findings relate to histopathologic
Externí odkaz:
https://doaj.org/article/f286867d6bd14e3eb8e4d4ab26587d3a
Autor:
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses
Externí odkaz:
https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1241-1251 (2022)
Abstract Objective To investigate biomarkers of disease progression in cerebrospinal fluid (CSF) and serum in adult patients with spinal muscular atrophy (SMA). Furthermore, we assess the clinical response to nusinersen treatment in adults with SMA o
Externí odkaz:
https://doaj.org/article/8f23d34f4aab4b0b865e8f07b3acea96
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Muscular dystrophies (MD) are a class of rare genetic diseases resulting in progressive muscle weakness affecting specific muscle groups, depending on the type of disease. Disease progression is characterized by the gradual replacement of muscle tiss
Externí odkaz:
https://doaj.org/article/b93175c2bd70477284abbb95c46e7d14
Autor:
Jacqueline Palace, Kristl G Claeys, Andreas Meisel, Casey Quinn, Srikanth Muppidi, Francesco Saccà, Sonia Berrih-Aknin, Mark Larkin, Jon Beauchamp, Sandra Paci, Glenn Philips, Fatemeh Amini, Femke De Ruyck, Joyce Ramirez
Publikováno v:
BMJ Open, Vol 13, Iss 5 (2023)
Objectives This study aims to explore the impact of myasthenia gravis (MG) — in terms of treatments, side effects, comorbidities, psychological health and work or study— in the real world from a patient perspective.Design and participants This is
Externí odkaz:
https://doaj.org/article/1abfca6660ea4b04b7ca9028a4ffc0d7
Autor:
Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G. Claeys, Federica Montagnese, llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Löscher, Anne-Katrin Güttsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk, Heidrun H. Krämer, Andreas Hahn, Benedikt Schoser, Angela Rosenbohm, Anne Schänzer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to a small nerve fiber i
Externí odkaz:
https://doaj.org/article/8d4137d23d2245da8ad038e850fd7d75