Nielsen JE - Search Results

1

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia.

Nielsen TT, Svenstrup K, Budtz-Jørgensen E, Eiberg H, Hasholt L, Nielsen JE. Nielsen TT, et al. Among authors: nielsen je. J Neurol Sci. 2012 Oct 15;321(1-2):100-2. doi: 10.1016/j.jns.2012.07.036. Epub 2012 Aug 3. J Neurol Sci. 2012. PMID: 22868089

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

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

6

Motor activation in SPG4-linked hereditary spastic paraplegia.

Scheuer KH, Nielsen JE, Krabbe K, Paulson OB, Law I. Scheuer KH, et al. Among authors: nielsen je. J Neurol Sci. 2006 May 15;244(1-2):31-9. doi: 10.1016/j.jns.2005.12.007. Epub 2006 Mar 29. J Neurol Sci. 2006. PMID: 16571355

7

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

Hansen J, Svenstrup K, Ang D, Nielsen MN, Christensen JH, Gregersen N, Nielsen JE, Georgopoulos C, Bross P. Hansen J, et al. Among authors: nielsen mn, nielsen je. J Neurol. 2007 Jul;254(7):897-900. doi: 10.1007/s00415-006-0470-y. Epub 2007 Apr 10. J Neurol. 2007. PMID: 17420924

8

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.

Lindquist SG, Nielsen JE, Stokholm J, Schwartz M, Batbayli M, Ballegaard M, Erdal J, Krabbe K, Waldemar G. Lindquist SG, et al. Among authors: nielsen je. J Neurol Sci. 2008 May 15;268(1-2):124-30. doi: 10.1016/j.jns.2007.11.021. Epub 2008 Jan 9. J Neurol Sci. 2008. PMID: 18187157

9

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

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

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