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Page 1
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. O'Driscoll MC, et al. Among authors: brockmann k. Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727516 Free PMC article.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Among authors: brockmann k. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: brockmann k. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: brockmann k. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Smogavec M, et al. Among authors: brockmann k. J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20. J Med Genet. 2016. PMID: 27439707
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. Zou Y, et al. Among authors: brockmann k. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11. Hum Mol Genet. 2014. PMID: 24334604 Free PMC article.
Polymicrogyria in fetal alcohol syndrome.
Reinhardt K, Mohr A, Gärtner J, Spohr HL, Brockmann K. Reinhardt K, et al. Among authors: brockmann k. Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):128-31. doi: 10.1002/bdra.20629. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 19764076
395 results