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Page 1
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: de visser m, de bleecker jl, de leon hernandez jc. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
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
The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ. de Vries SD, et al. Among authors: de visser m. J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x. J Peripher Nerv Syst. 2011. PMID: 21692910
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: de visser m. Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28. Neurobiol Aging. 2012. PMID: 21802176
Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: de visser m. Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11. Neurobiol Aging. 2012. PMID: 22330174
Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial.
Verstraete E, Veldink JH, Huisman MH, Draak T, Uijtendaal EV, van der Kooi AJ, Schelhaas HJ, de Visser M, van der Tweel I, van den Berg LH. Verstraete E, et al. Among authors: de visser m. J Neurol Neurosurg Psychiatry. 2012 May;83(5):557-64. doi: 10.1136/jnnp-2011-302021. Epub 2012 Feb 29. J Neurol Neurosurg Psychiatry. 2012. PMID: 22378918 Clinical Trial.
500 results