Laccone F - Search Results

1

Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay.

Steinkellner H, Etzler J, Gmeiner BM, Laccone F. Steinkellner H, et al. Among authors: laccone f. Assay Drug Dev Technol. 2015 Apr;13(3):167-73. doi: 10.1089/adt.2015.635. Epub 2015 Apr 7. Assay Drug Dev Technol. 2015. PMID: 25848917

2

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease.

Seeman P, Laccone F, Reiss J, Stoppe G. Seeman P, et al. Among authors: laccone f. Hum Mutat. 1995;5(1):103-4. doi: 10.1002/humu.1380050116. Hum Mutat. 1995. PMID: 7728146 No abstract available.

3

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Steinkellner H, et al. Among authors: laccone f. Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469541 Free PMC article.

4

An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants.

Steinkellner H, Schönegger A, Etzler J, Kempaiah P, Huber A, Hahn K, Rose K, Duerr M, Christodoulou J, Beribisky AV, Neuhaus W, Laccone F. Steinkellner H, et al. Among authors: laccone f. Sci Rep. 2019 May 28;9(1):7929. doi: 10.1038/s41598-019-44372-3. Sci Rep. 2019. PMID: 31138832 Free PMC article.

5

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.

Steinkellner H, Beribisky AV, Mausberg P, Christodoulou J, Scheiber-Mojdehkar B, Huber A, Sarne V, Laccone F. Steinkellner H, et al. Among authors: laccone f. J Vis Exp. 2020 May 22;(159). doi: 10.3791/61054. J Vis Exp. 2020. PMID: 32510486

6

TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.

Steinkellner H, Kempaiah P, Beribisky AV, Pferschy S, Etzler J, Huber A, Sarne V, Neuhaus W, Kuttke M, Bauer J, Arunachalam JP, Christodoulou J, Dressel R, Mildner A, Prinz M, Laccone F. Steinkellner H, et al. Among authors: laccone f. Int J Biol Macromol. 2022 Jun 1;209(Pt A):972-983. doi: 10.1016/j.ijbiomac.2022.04.080. Epub 2022 Apr 20. Int J Biol Macromol. 2022. PMID: 35460749

7

Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants.

Beribisky AV, Steinkellner H, Geislberger S, Huber A, Sarne V, Christodoulou J, Laccone F. Beribisky AV, et al. Among authors: laccone f. Protein J. 2022 Apr;41(2):345-359. doi: 10.1007/s10930-022-10054-9. Epub 2022 May 12. Protein J. 2022. PMID: 35546650 Free PMC article.

8

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.

Behunova J, Gerykova Bujalkova M, Gras G, Taylor T, Ihm U, Kircher S, Rehder H, Laccone F. Behunova J, et al. Among authors: laccone f. Mol Syndromol. 2019 Jan;9(6):287-294. doi: 10.1159/000494451. Epub 2018 Nov 13. Mol Syndromol. 2019. PMID: 30800044 Free PMC article.

9

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T. Parzefall T, et al. Among authors: laccone f. Front Cell Neurosci. 2020 Nov 12;14:585669. doi: 10.3389/fncel.2020.585669. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33281559 Free PMC article.

10

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

Finsterer J, Stöllberger C, Wollmann E, Dertinger S, Laccone F. Finsterer J, et al. Among authors: laccone f. Mol Genet Metab Rep. 2016 Jun 2;8:1-3. doi: 10.1016/j.ymgmr.2016.05.005. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 28649555 Free PMC article.

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