Nygren AO - Search Results

1

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.

Djarmati A, Guzvić M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AO, Beetz C, Hedrich K, Klein C. Djarmati A, et al. Among authors: nygren ao. Mov Disord. 2007 Sep 15;22(12):1708-14. doi: 10.1002/mds.21370. Mov Disord. 2007. PMID: 17674414

2

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.

Beetz C, Nygren AO, Deufel T, Reid E. Beetz C, et al. Among authors: nygren ao. Neurogenetics. 2007 Nov;8(4):317-8. doi: 10.1007/s10048-007-0099-8. Epub 2007 Jul 27. Neurogenetics. 2007. PMID: 17657515 No abstract available.

3

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: nygren ao. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.

4

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T. Beetz C, et al. Among authors: nygren ao. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675

5

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schüle R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schöls L, Winner B, Beetz C, Reid E. Newton T, et al. Among authors: nygren aoh. Brain. 2018 May 1;141(5):1286-1299. doi: 10.1093/brain/awy034. Brain. 2018. PMID: 29481671 Free PMC article.

6

Fluorescent resonance energy transfer (FRET) based detection of a multiplex ligation-dependent probe amplification assay (MLPA) product.

Ozalp VC, Nygren AO, O'Sullivan CK. Ozalp VC, et al. Among authors: nygren ao. Mol Biosyst. 2008 Sep;4(9):950-4. doi: 10.1039/b802382d. Epub 2008 Jul 22. Mol Biosyst. 2008. PMID: 18704233

7

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. Mitne-Neto M, et al. Among authors: nygren ao. Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26. Eur J Hum Genet. 2007. PMID: 17895902

8

Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.

Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS. Alsum Z, et al. Among authors: nygren ao. Genet Test Mol Biomarkers. 2010 Feb;14(1):135-9. doi: 10.1089/gtmb.2009.0092. Genet Test Mol Biomarkers. 2010. PMID: 19916794

9

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.

Nygren AO, Lens SI, Carvalho R. Nygren AO, et al. J Mol Diagn. 2008 Nov;10(6):496-501. doi: 10.2353/jmoldx.2008.080053. Epub 2008 Oct 2. J Mol Diagn. 2008. PMID: 18832455 Free PMC article.

10

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.

Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. Scott RH, et al. Among authors: nygren ao. J Med Genet. 2008 Feb;45(2):106-13. doi: 10.1136/jmg.2007.053207. Epub 2007 Oct 15. J Med Genet. 2008. PMID: 18245390

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