Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

40 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
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
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
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T. Beetz C, et al. Among authors: nygren ao. Hum Mutat. 2007 Jul;28(7):739-40. doi: 10.1002/humu.20508. Hum Mutat. 2007. PMID: 17345589 No abstract available.
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Among authors: nygren ao. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.
40 results