Zobrazeno 1 - 10
of 444
pro vyhledávání: '"C, Voermans"'
Autor:
E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, N. C. Voermans, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy
Externí odkaz:
https://doaj.org/article/e37f4d0091164ff29b157e0a38585486
Autor:
Yorrick R. J. Jaspers, Hemmo A. F. Yska, Caroline G. Bergner, Inge M. E. Dijkstra, Irene C. Huffnagel, Marije M. C. Voermans, Eric Wever, Gajja S. Salomons, Frédéric M. Vaz, Aldo Jongejan, Jill Hermans, Rebecca K. Tryon, Troy C. Lund, Wolfgang Köhler, Marc Engelen, Stephan Kemp
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-16 (2024)
Abstract Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical mani
Externí odkaz:
https://doaj.org/article/d97e5ad3080540c59c9d92f89579ba8b
Autor:
R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 171-181 (2024)
Abstract Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein (ISPD), fukutin‐related protein (FKRP), and fukutin (FKTN) genes. Th
Externí odkaz:
https://doaj.org/article/1815c6e982004a889620da37199c4367
Autor:
Sanne C.C. Vincenten, Karlien Mul, Daniël vanAs, Julia J. Jansen, Linda Heskamp, Arend Heerschap, Baziel G.M. vanEngelen, Nicol C. Voermans
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 4, Pp 1695-1706 (2023)
Abstract Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI
Externí odkaz:
https://doaj.org/article/9f75fa9bef2e4cbab604efb78a1219d3
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:
Nick Kruijt, L. R. van den Bersselaar, M. T. E. Hopman, M. M. J. Snoeck, M. van Rijswick, T. G. H. Wiggers, H. Jungbluth, C. C. W. G. Bongers, N. C. Voermans
Publikováno v:
Sports Medicine - Open, Vol 9, Iss 1, Pp 1-17 (2023)
Abstract Introduction Exertional heat stroke (EHS) is a medical emergency, occurring when the body generates more heat than it can dissipate, and frequently associated with exertional rhabdomyolysis (ERM). In the present study we aimed to (I) identif
Externí odkaz:
https://doaj.org/article/d5c8d3ac818141f190d970a8f4063379
Autor:
Julia C. Berentschot, Hemmo A. Drexhage, Daniel G. Aynekulu Mersha, Annemarie J. M. Wijkhuijs, Corine H. GeurtsvanKessel, Marion P. G. Koopmans, Jolanda J. C. Voermans, Rudi W. Hendriks, Nicole M. A. Nagtzaam, Maaike de Bie, Majanka H. Heijenbrok-Kal, L. Martine Bek, Gerard M. Ribbers, Rita J. G. van den Berg-Emons, Joachim G. J. V. Aerts, Willem A. Dik, Merel E. Hellemons
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
BackgroundMany patients with SARS-CoV-2 infection develop long COVID with fatigue as one of the most disabling symptoms. We performed clinical and immune profiling of fatigued and non-fatigued long COVID patients and age- and sex-matched healthy cont
Externí odkaz:
https://doaj.org/article/e0596feea1eb4a5281d08dc5597ad25c
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
Autor:
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado, Arend Heerschap, Benno Küsters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvère M. van der Maarel
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
Abstract With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important. Considering the spatiotemporal nature of FSHD disease activity, clinical t
Externí odkaz:
https://doaj.org/article/57f2734de5df4b63b76dcb2ef71b6ffa
Autor:
Jolanda J. C. Voermans, Daphne G. J. C. Mulders, Rob J. J. Beerkens, Marlize van Duijn, Liesbeth van der Zwaan, Janette Rahamat-Langendoen, Annemiek van der Eijk, Marion P. G. Koopmans, Richard Molenkamp
Publikováno v:
International Journal of Microbiology, Vol 2023 (2023)
Clinical decision-making regarding isolation of SARS-CoV-2 patients is usually based on semiquantitative cycle-threshold (Ct) values without standardization. However, not all molecular assays produce Ct values, and there is ongoing discussion about w
Externí odkaz:
https://doaj.org/article/dfda3dfe35464b21b746633d2506ae07