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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. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Bilateral lesions of thalamus and basal ganglia: origin and outcome.
Krägeloh-Mann I, Helber A, Mader I, Staudt M, Wolff M, Groenendaal F, DeVries L. Krägeloh-Mann I, et al. Dev Med Child Neurol. 2002 Jul;44(7):477-84. doi: 10.1017/s0012162201002389. Dev Med Child Neurol. 2002. PMID: 12162385 Free article.
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.
Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Müller T, Gubser-Mercati D, Schmitt Mechelke T, Krägeloh-Mann I, Boltshauser E. Steinlin M, et al. Eur J Paediatr Neurol. 2007 May;11(3):146-52. doi: 10.1016/j.ejpn.2006.11.012. Epub 2007 Feb 22. Eur J Paediatr Neurol. 2007. PMID: 17320436
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Scheper GC, et al. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
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. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Sánchez-Albisua I, et al. Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. Orphanet J Rare Dis. 2014. PMID: 24886362 Free PMC article.
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I. Ekert K, et al. Orphanet J Rare Dis. 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. Orphanet J Rare Dis. 2016. PMID: 27430971 Free PMC article.
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap MS, Pouwels PJW, Wolf NI. Harting I, et al. Neurogenetics. 2020 Apr;21(2):121-133. doi: 10.1007/s10048-019-00602-4. Epub 2020 Jan 15. Neurogenetics. 2020. PMID: 31940116 Free PMC article.
240 results