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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: claeys kg. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G. Claeys KG, et al. Neuromuscul Disord. 2008 Aug;18(8):656-66. doi: 10.1016/j.nmd.2008.06.367. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653338
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. Bevilacqua JA, et al. Among authors: claeys kg. Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16. Acta Neuropathol. 2009. PMID: 19084976
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
Stojkovic T, Hammouda el H, Richard P, López de Munain A, Ruiz-Martinez J, Camaño P, Laforêt P, Pénisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage CA, Fardeau M, Eymard B. Stojkovic T, et al. Among authors: claeys kg. Neuromuscul Disord. 2009 May;19(5):316-23. doi: 10.1016/j.nmd.2009.02.012. Epub 2009 Apr 11. Neuromuscul Disord. 2009. PMID: 19364651
Core-rod myopathy caused by mutations in the nebulin gene.
Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C. Romero NB, et al. Among authors: claeys kg. Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. Neurology. 2009. PMID: 19805734 No abstract available.
Rigid spine syndrome revealing late-onset Pompe disease.
Laforêt P, Doppler V, Caillaud C, Laloui K, Claeys KG, Richard P, Ferreiro A, Eymard B. Laforêt P, et al. Among authors: claeys kg. Neuromuscul Disord. 2010 Feb;20(2):128-30. doi: 10.1016/j.nmd.2009.11.006. Epub 2009 Dec 14. Neuromuscul Disord. 2010. PMID: 20005713
DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
Claeys KG, Sozanska M, Martin JJ, Lacene E, Vignaud L, Stockholm D, Laforêt P, Eymard B, Kichler A, Scherman D, Voit T, Israeli D. Claeys KG, et al. Am J Pathol. 2010 Jun;176(6):2901-10. doi: 10.2353/ajpath.2010.090663. Epub 2010 Apr 15. Am J Pathol. 2010. PMID: 20395441 Free PMC article.
171 results