Beetz C - Search Results

1

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: beetz c. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063

2

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T. Beetz C, et al. Hum Mutat. 2007 Jul;28(7):739-40. doi: 10.1002/humu.20508. Hum Mutat. 2007. PMID: 17345589 No abstract available.

3

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.

Beetz C, Bergner S, Brodoehl S, Brodhun M, Ewald C, Kalff R, Krüger J, Patt S, Kiehntopf M, Deufel T. Beetz C, et al. Int J Oncol. 2006 Nov;29(5):1183-91. Int J Oncol. 2006. PMID: 17016650

4

A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both components.

Kuhn SA, Hanisch UK, Ebmeier K, Beetz C, Brodhun M, Reichart R, Ewald C, Deufel T, Kalff R. Kuhn SA, et al. Among authors: beetz c. Neurosurg Rev. 2007 Apr;30(2):143-9; discussion 149. doi: 10.1007/s10143-007-0069-5. Epub 2007 Feb 27. Neurosurg Rev. 2007. PMID: 17333087

5

Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.

Beetz C, Brodoehl S, Patt S, Kalff R, Deufel T. Beetz C, et al. Oncol Rep. 2005 Feb;13(2):335-40. Oncol Rep. 2005. PMID: 15643521

6

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas.

Beetz C, Hartmann A, Kiehntopf M, Wölfl S, Kalff R, Deufel T, Patt S. Beetz C, et al. Clin Chem Lab Med. 2004;42(6):595-601. doi: 10.1515/CCLM.2004.103. Clin Chem Lab Med. 2004. PMID: 15259374

7

Control of foot differentiation in Hydra: in vitro evidence that the NK-2 homeobox factor CnNK-2 autoregulates its own expression and uses pedibin as target gene.

Thomsen S, Till A, Wittlieb J, Beetz C, Khalturin K, Bosch TC. Thomsen S, et al. Among authors: beetz c. Mech Dev. 2004 Feb;121(2):195-204. doi: 10.1016/j.mod.2003.12.001. Mech Dev. 2004. PMID: 15037320 Free article.

8

Molecular characterization of voltage-gated sodium channels in human gliomas.

Schrey M, Codina C, Kraft R, Beetz C, Kalff R, Wölfl S, Patt S. Schrey M, et al. Among authors: beetz c. Neuroreport. 2002 Dec 20;13(18):2493-8. doi: 10.1097/00001756-200212200-00023. Neuroreport. 2002. PMID: 12499855

9

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

Beetz C, Brodhun M, Moutzouris K, Kiehntopf M, Berndt A, Lehnert D, Deufel T, Bastmeyer M, Schickel J. Beetz C, et al. Biochem Biophys Res Commun. 2004 Jun 11;318(4):1079-84. doi: 10.1016/j.bbrc.2004.03.195. Biochem Biophys Res Commun. 2004. PMID: 15147984

10

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

Jahic A, Kreuz F, Zacher P, Fiedler J, Bier A, Reif S, Rieger M, Krüger S, Beetz C, Plaschke J. Jahic A, et al. Among authors: beetz c. J Neurol Sci. 2014 Dec 15;347(1-2):372-4. doi: 10.1016/j.jns.2014.10.018. Epub 2014 Oct 16. J Neurol Sci. 2014. PMID: 25454649

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