Nielsen JE - Search Results

1

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.

Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium. Nielsen TT, et al. Among authors: nielsen je. J Gene Med. 2012 Aug;14(8):521-9. doi: 10.1002/jgm.2649. J Gene Med. 2012. PMID: 22786763

2

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Nørremølle A, Hasholt L. Nielsen JE, et al. Prenat Diagn. 2004 May;24(5):363-6. doi: 10.1002/pd.875. Prenat Diagn. 2004. PMID: 15164410

3

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins.

Nørremølle A, Hasholt L, Petersen CB, Eiberg H, Hasselbalch SG, Gideon P, Nielsen JE, Sørensen SA. Nørremølle A, et al. Among authors: nielsen je. Am J Med Genet A. 2004 Oct 1;130A(2):154-9. doi: 10.1002/ajmg.a.30128. Am J Med Genet A. 2004. PMID: 15372528

4

Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia.

Scheuer KH, Nielsen JE, Krabbe K, Simonsen C, Koefoed P, Sørensen SA, Gade A, Paulson OB, Law I. Scheuer KH, et al. Among authors: nielsen je. J Neurol Sci. 2005 Aug 15;235(1-2):23-32. doi: 10.1016/j.jns.2005.03.051. J Neurol Sci. 2005. PMID: 15939438

5

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.

Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Skibinski G, et al. Among authors: nielsen je. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041373

6

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.

Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. J Neurol Sci. 2006 Feb 15;241(1-2):95-8. doi: 10.1016/j.jns.2005.10.004. Epub 2005 Nov 28. J Neurol Sci. 2006. PMID: 16310805

7

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.

Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium. Lindquist SG, et al. Among authors: nielsen je. Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15. Eur J Neurol. 2008. PMID: 18484988

8

Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers.

Eskildsen SF, Østergaard LR, Rodell AB, Østergaard L, Nielsen JE, Isaacs AM, Johannsen P. Eskildsen SF, et al. Among authors: nielsen je. Neuroimage. 2009 Apr 15;45(3):713-21. doi: 10.1016/j.neuroimage.2008.12.024. Epub 2008 Dec 25. Neuroimage. 2009. PMID: 19150504

9

Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation.

Rohrer JD, Ahsan RL, Isaacs AM, Nielsen JE, Ostergaard L, Scahill R, Warren JD, Rossor MN, Fox NC, Johannsen P; FReJA consortium. Rohrer JD, et al. Among authors: nielsen je. Dement Geriatr Cogn Disord. 2009;27(2):182-6. doi: 10.1159/000200466. Epub 2009 Feb 7. Dement Geriatr Cogn Disord. 2009. PMID: 19202337

10

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE. Svenstrup K, et al. Among authors: nielsen je. J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6. J Neurol Sci. 2009. PMID: 19423133

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

457 results

Search Page