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Items: 5

1.

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Flotats-Bastardas M, Hebert E, Raspall-Chaure M, Munell F, Macaya A, Lohmann K.

Neuropediatrics. 2018 Aug;49(4):296-297. doi: 10.1055/s-0038-1626709. Epub 2018 Feb 22. No abstract available.

PMID:
29471552
2.

The expression of the MSC-marker CD73 and of NF2/Merlin are correlated in meningiomas.

Kirches E, Steffen T, Waldt N, Hebert E, Pachow D, Wilisch-Neumann A, Keilhoff G, Schneider T, Braunsdorf WEK, Warnke JP, Mawrin C.

J Neurooncol. 2018 Jun;138(2):251-259. doi: 10.1007/s11060-018-2807-7. Epub 2018 Feb 21.

PMID:
29468444
3.

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K.

Genes (Basel). 2017 Oct 18;8(10). pii: E276. doi: 10.3390/genes8100276. Review.

4.

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

Richter A, Hollstein R, Hebert E, Vulinovic F, Eckhold J, Osmanovic A, Depping R, Kaiser FJ, Lohmann K.

J Mol Neurosci. 2017 May;62(1):11-16. doi: 10.1007/s12031-017-0904-2. Epub 2017 Mar 15.

PMID:
28299530
5.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA.

Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.

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