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Page 1
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J. Ross JA, et al. Among authors: claeys kg. Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19. Acta Neuropathol. 2019. PMID: 31218456 Free PMC article.
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.
Stenzel W, Preuße C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, Nolte K, Aronica E, Kana V, Rushing E, Schneider U, Claeys KG, Benveniste O, Weis J, Goebel HH. Stenzel W, et al. Among authors: claeys kg. Neurology. 2015 Mar 31;84(13):1346-54. doi: 10.1212/WNL.0000000000001422. Epub 2015 Mar 6. Neurology. 2015. PMID: 25746564 Free article.
Towards a functional pathology of hereditary neuropathies.
Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Weis J, et al. Among authors: claeys kg. Acta Neuropathol. 2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28. Acta Neuropathol. 2017. PMID: 27896434 Review.
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P, Ferbert A, Petri S, Hartmann C, Bornemann A, Meisel A, Petersen JA, Tousseyn T, Thal DR, Reimann J, De Jonghe P, Martin JJ, Van den Bergh PY, Schulz JB, Weis J, Claeys KG. Schnitzler LJ, et al. Among authors: claeys kg. Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Orphanet J Rare Dis. 2017. PMID: 28490364 Free PMC article. Review.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Johnson K, et al. Among authors: claeys kg. Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1. Skelet Muscle. 2018. PMID: 30060766 Free PMC article.
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A. Kulessa M, et al. Among authors: claeys kg. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: claeys kg. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
179 results