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Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient-reported outcome measures.
De Wel B, Iterbeke L, Huysmans L, Peeters R, Goosens V, Dubuisson N, van den Bergh P, Van Parijs V, Remiche G, De Waele L, Maes F, Dupont P, Claeys KG. De Wel B, et al. Among authors: van den bergh p. Eur J Neurol. 2024 Mar 20:e16282. doi: 10.1111/ene.16282. Online ahead of print. Eur J Neurol. 2024. PMID: 38504654
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: van den bergh p. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
van Doorn PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist-Markens PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. van Doorn PA, et al. Among authors: van den bergh pyk. Eur J Neurol. 2023 Dec;30(12):3646-3674. doi: 10.1111/ene.16073. Epub 2023 Oct 10. Eur J Neurol. 2023. PMID: 37814552
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
van Doorn PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist-Markens PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. van Doorn PA, et al. Among authors: van den bergh pyk. J Peripher Nerv Syst. 2023 Dec;28(4):535-563. doi: 10.1111/jns.12594. Epub 2023 Oct 10. J Peripher Nerv Syst. 2023. PMID: 37814551 Review.
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: van den bergh p. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Among authors: van den bergh p. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022.
Walter MC, Laforêt P, van der Pol WL, Pegoraro E; 254th ENMC Workshop Study Group. Walter MC, et al. Neuromuscul Disord. 2023 Jun;33(6):511-522. doi: 10.1016/j.nmd.2023.03.011. Epub 2023 Mar 29. Neuromuscul Disord. 2023. PMID: 37245491 No abstract available.
Observation of the radiative decay of the 229Th nuclear clock isomer.
Kraemer S, Moens J, Athanasakis-Kaklamanakis M, Bara S, Beeks K, Chhetri P, Chrysalidis K, Claessens A, Cocolios TE, Correia JGM, Witte H, Ferrer R, Geldhof S, Heinke R, Hosseini N, Huyse M, Köster U, Kudryavtsev Y, Laatiaoui M, Lica R, Magchiels G, Manea V, Merckling C, Pereira LMC, Raeder S, Schumm T, Sels S, Thirolf PG, Tunhuma SM, Van Den Bergh P, Van Duppen P, Vantomme A, Verlinde M, Villarreal R, Wahl U. Kraemer S, et al. Among authors: van den bergh p. Nature. 2023 May;617(7962):706-710. doi: 10.1038/s41586-023-05894-z. Epub 2023 May 24. Nature. 2023. PMID: 37225880
214 results