Jahic A - Search Results

1

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C. Bock AS, et al. Among authors: jahic a. Hum Mutat. 2018 Feb;39(2):193-196. doi: 10.1002/humu.23369. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29124833

2

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: jahic a. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651

3

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings JC, Huebner AK, Symmank J, Jahic A, Ilina EI, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner CA. Khundadze M, et al. Among authors: jahic a. PLoS Genet. 2013;9(12):e1003988. doi: 10.1371/journal.pgen.1003988. Epub 2013 Dec 19. PLoS Genet. 2013. PMID: 24367272 Free PMC article.

4

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. Jahic A, et al. Orphanet J Rare Dis. 2015 Nov 16;10:147. doi: 10.1186/s13023-015-0359-x. Orphanet J Rare Dis. 2015. PMID: 26572744 Free PMC article.

5

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

Jahic A, Hinreiner S, Emberger W, Hehr U, Zuchner S, Beetz C. Jahic A, et al. Hum Mutat. 2017 Mar;38(3):275-278. doi: 10.1002/humu.23162. Epub 2017 Jan 13. Hum Mutat. 2017. PMID: 28008689

6

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Varga RE, Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C. Varga RE, et al. Among authors: jahic a. Anal Biochem. 2012 Feb 15;421(2):799-801. doi: 10.1016/j.ab.2011.12.002. Epub 2011 Dec 9. Anal Biochem. 2012. PMID: 22222296

7

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. 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

8

A polymorphic Alu insertion that mediates distinct disease-associated deletions.

Jahic A, Erichsen AK, Deufel T, Tallaksen CM, Beetz C. Jahic A, et al. Eur J Hum Genet. 2016 Aug;24(9):1371-4. doi: 10.1038/ejhg.2016.20. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932189 Free PMC article.

9

Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.

Breen C, Mercer J, Jones SA, Jahic A, Heptinstall L, Tylee K, Newman WG, Beetz C. Breen C, et al. Among authors: jahic a. Hum Genome Var. 2016 Oct 6;3:16031. doi: 10.1038/hgv.2016.31. eCollection 2016. Hum Genome Var. 2016. PMID: 27766162 Free PMC article.

10

First HPSE2 missense mutation in urofacial syndrome.

Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: jahic a. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471

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