Siebert M - Search Results

1

Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase.

Pol-Fachin L, Siebert M, Verli H, Saraiva-Pereira ML. Pol-Fachin L, et al. Among authors: siebert m. Glycoconj J. 2016 Apr;33(2):237-44. doi: 10.1007/s10719-016-9661-7. Epub 2016 Mar 29. Glycoconj J. 2016. PMID: 27023912

2

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.

Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, França M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Siebert M, et al. Parkinsonism Relat Disord. 2012 Feb;18(2):185-90. doi: 10.1016/j.parkreldis.2011.09.024. Epub 2011 Oct 15. Parkinsonism Relat Disord. 2012. PMID: 22001711

3

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M, Bock H, Michelin-Tirelli K, Coelho JC, Giugliani R, Saraiva-Pereira ML. Siebert M, et al. JIMD Rep. 2013;9:7-16. doi: 10.1007/8904_2012_174. Epub 2012 Oct 9. JIMD Rep. 2013. PMID: 23430543 Free PMC article.

4

Screening of high-risk Gaucher disease patients using dried blood spots techniques.

Vairo F, Netto C, Tirelli KM, Siebert M, Burin M, Saraiva-Pereira ML, Balreira A, Sá Miranda MC, Lukacs Z, Schwartz IV. Vairo F, et al. Among authors: siebert m. Gene. 2013 Jul 1;523(1):114-5. doi: 10.1016/j.gene.2013.03.106. Epub 2013 Apr 6. Gene. 2013. PMID: 23566842 No abstract available.

5

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

Dal'Maso VB, Mallmann L, Siebert M, Simon L, Saraiva-Pereira ML, Dalcin Pde T. Dal'Maso VB, et al. Among authors: siebert m. J Bras Pneumol. 2013 Mar-Apr;39(2):181-9. doi: 10.1590/s1806-37132013000200009. J Bras Pneumol. 2013. PMID: 23670503 Free PMC article.

6

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.

Siebert M, Westbroek W, Chen YC, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E. Siebert M, et al. RNA Biol. 2014;11(10):1291-300. doi: 10.1080/15476286.2014.996085. RNA Biol. 2014. PMID: 25584808 Free PMC article.

7

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

Virgens MY, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira ML. Virgens MY, et al. Among authors: siebert m. Gene. 2015 Aug 15;568(1):69-75. doi: 10.1016/j.gene.2015.05.016. Epub 2015 May 9. Gene. 2015. PMID: 25965562

8

Tyrosine receptor kinase B gene variants (NTRK2 variants) are associated with depressive disorders in temporal lobe epilepsy.

Torres CM, Siebert M, Bock H, Mota SM, Castan JU, Scornavacca F, de Castro LA, Saraiva-Pereira ML, Bianchin MM. Torres CM, et al. Among authors: siebert m. Epilepsy Behav. 2017 Jun;71(Pt A):65-72. doi: 10.1016/j.yebeh.2017.03.030. Epub 2017 May 24. Epilepsy Behav. 2017. PMID: 28550723

9

NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study.

Torres CM, Siebert M, Bock H, Mota SM, Krammer BR, Duarte JÁ, Bragatti JA, Castan JU, de Castro LA, Saraiva-Pereira ML, Bianchin MM. Torres CM, et al. Among authors: siebert m. Epilepsy Res. 2017 Nov;137:1-8. doi: 10.1016/j.eplepsyres.2017.08.010. Epub 2017 Aug 25. Epilepsy Res. 2017. PMID: 28863320

10

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D, Polese-Bonatto M, Scudeiro LAJ, Björkhem I, Schöls L, Jardim LB, Matte U, Saraiva-Pereira ML, Siebert M, Saute JAM. Burguez D, et al. Among authors: siebert m. J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10. J Neurol Sci. 2017. PMID: 29246610

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