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509 results

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Page 1
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB. van der Kooi AJ, et al. Among authors: de visser m. Neuromuscul Disord. 2013 Jun;23(6):456-60. doi: 10.1016/j.nmd.2013.03.012. Epub 2013 Apr 19. Neuromuscul Disord. 2013. PMID: 23607914
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.
Bonne G, Capeau J, De Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der Kooi A, Worman H, Schwartz K. Bonne G, et al. Among authors: de visser m. Neuromuscul Disord. 2002 Feb;12(2):187-94. doi: 10.1016/s0960-8966(01)00243-7. Neuromuscul Disord. 2002. PMID: 11738362 No abstract available.
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Pepe G, et al. Among authors: de visser m. Neuromuscul Disord. 2002 Dec;12(10):984-93. doi: 10.1016/s0960-8966(02)00139-6. Neuromuscul Disord. 2002. PMID: 12467756 No abstract available.
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Bonne G, Yaou RB, Béroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M. Bonne G, et al. Among authors: de visser m. Neuromuscul Disord. 2003 Aug;13(6):508-15. doi: 10.1016/s0960-8966(03)00063-4. Neuromuscul Disord. 2003. PMID: 12899879 Review. No abstract available.
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, Duboc D, Rossenbacker T, Heidbüchel H, de Visser M, Crijns HJ, Pinto YM. van Berlo JH, et al. Among authors: de voogt wg, de visser m. J Mol Med (Berl). 2005 Jan;83(1):79-83. doi: 10.1007/s00109-004-0589-1. Epub 2004 Nov 13. J Mol Med (Berl). 2005. PMID: 15551023
Cardiac and pulmonary investigations in Bethlem myopathy.
van der Kooi AJ, de Voogt WG, Bertini E, Merlini L, Talim FB, Ben Yaou R, Urtziberea A, de Visser M. van der Kooi AJ, et al. Among authors: de voogt wg, de visser m. Arch Neurol. 2006 Nov;63(11):1617-21. doi: 10.1001/archneur.63.11.1617. Arch Neurol. 2006. PMID: 17101832
Disease course and prognostic factors of progressive muscular atrophy.
Visser J, van den Berg-Vos RM, Franssen H, van den Berg LH, Wokke JH, de Jong JM, Holman R, de Haan RJ, de Visser M. Visser J, et al. Among authors: de jong jm, de visser m, de haan rj. Arch Neurol. 2007 Apr;64(4):522-8. doi: 10.1001/archneur.64.4.522. Arch Neurol. 2007. PMID: 17420313
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: de visser m. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.
Brugman F, Veldink JH, Franssen H, de Visser M, de Jong JM, Faber CG, Kremer BH, Schelhaas HJ, van Doorn PA, Verschuuren JJ, Bruyn RP, Kuks JB, Robberecht W, Wokke JH, van den Berg LH. Brugman F, et al. Among authors: de jong jm, de visser m. Arch Neurol. 2009 Apr;66(4):509-14. doi: 10.1001/archneurol.2009.19. Arch Neurol. 2009. PMID: 19364936
509 results