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An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Hubregtse L, Bouman K, Lama C, Lassche S, de Graaf N, Taglietti V, Küsters B, Periou B, Relaix F, van Engelen B, Authier FJ, Voermans NC, Malfatti E. Hubregtse L, et al. Among authors: lassche s. Neuromuscul Disord. 2024 Mar;36:6-15. doi: 10.1016/j.nmd.2024.01.003. Epub 2024 Jan 14. Neuromuscul Disord. 2024. PMID: 38306719 Free article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: lassche s. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
Claus C, Slavin M, Ansseau E, Lancelot C, Bah K, Lassche S, Fiévet M, Greco A, Tomaiuolo S, Tassin A, Dudome V, Kusters B, Declèves AE, Laoudj-Chenivesse D, van Engelen BGM, Nonclercq D, Belayew A, Kalisman N, Coppée F. Claus C, et al. Among authors: lassche s. Skelet Muscle. 2023 Mar 7;13(1):5. doi: 10.1186/s13395-022-00310-y. Skelet Muscle. 2023. PMID: 36882853 Free PMC article.
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C. Roth F, et al. Among authors: lassche s. Acta Neuropathol. 2022 Dec;144(6):1157-1170. doi: 10.1007/s00401-022-02503-7. Epub 2022 Oct 5. Acta Neuropathol. 2022. PMID: 36197469 Free PMC article.
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
van den Heuvel A, Lassche S, Mul K, Greco A, San León Granado D, Heerschap A, Küsters B, Tapscott SJ, Voermans NC, van Engelen BGM, van der Maarel SM. van den Heuvel A, et al. Among authors: lassche s. Sci Rep. 2022 Jan 26;12(1):1426. doi: 10.1038/s41598-022-04817-8. Sci Rep. 2022. PMID: 35082321 Free PMC article.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Vincenten SCC, Van Der Stoep N, Paulussen ADC, Mul K, Badrising UA, Kriek M, Van Der Heijden OWH, Van Engelen BGM, Voermans NC, De Die-Smulders CEM, Lassche S. Vincenten SCC, et al. Among authors: lassche s. Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1. Clin Genet. 2022. PMID: 34297364 Free PMC article. Review.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Among authors: lassche s. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
Raz V, Kroon RHMJM, Mei H, Riaz M, Buermans H, Lassche S, Horlings C, Swart B, Kalf J, Harish P, Vissing J, Kielbasa S, van Engelen BGM. Raz V, et al. Among authors: lassche s. Int J Mol Sci. 2020 Aug 22;21(17):6059. doi: 10.3390/ijms21176059. Int J Mol Sci. 2020. PMID: 32842713 Free PMC article.
24 results