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209 results

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Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Among authors: brouwer of. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
In children with Friedreich ataxia, muscle and ataxia parameters are associated.
Sival DA, Pouwels ME, Van Brederode A, Maurits NM, Verschuuren-Bemelmans CC, Brunt ER, Du Marchie Sarvaas GJ, Verbeek RJ, Brouwer OF, Van Der Hoeven JH. Sival DA, et al. Among authors: brouwer of. Dev Med Child Neurol. 2011 Jun;53(6):529-34. doi: 10.1111/j.1469-8749.2011.03931.x. Dev Med Child Neurol. 2011. PMID: 21574990 Free article.
Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: brouwer of. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, Brilstra EH. Verbeek NE, et al. Among authors: brouwer of. Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22. Neurology. 2015. PMID: 26203087
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Among authors: brouwer of. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
209 results