Nielsen JE - Search Results

1

Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.

Lindquist SG, Schwartz M, Batbayli M, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. Clin Genet. 2009 Aug;76(2):205-9. doi: 10.1111/j.1399-0004.2009.01191.x. Epub 2009 Jul 29. Clin Genet. 2009. PMID: 19659892

2

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

Lindquist SG, Holm IE, Schwartz M, Law I, Stokholm J, Batbayli M, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. Eur J Neurol. 2008 Apr;15(4):377-85. doi: 10.1111/j.1468-1331.2008.02069.x. Epub 2008 Feb 16. Eur J Neurol. 2008. PMID: 18284428

3

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Nørremølle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. Eur J Neurol. 2008 Oct;15(10):1135-9. doi: 10.1111/j.1468-1331.2008.02256.x. Epub 2008 Aug 22. Eur J Neurol. 2008. PMID: 18727676

4

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4. Clin Genet. 2013. PMID: 22650353

5

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

6

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E. Bisgaard AM, et al. Among authors: nielsen je. Clin Genet. 2009 Feb;75(2):175-9. doi: 10.1111/j.1399-0004.2008.01113.x. Epub 2008 Nov 21. Clin Genet. 2009. PMID: 19054018

7

Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors.

Schultz K, Nilsson K, Nielsen JE, Lindquist SG, Hjermind LE, Andersen BB, Wallin A, Nilsson C, Petersén A. Schultz K, et al. Among authors: nielsen je. Eur J Neurol. 2010 Mar;17(3):456-60. doi: 10.1111/j.1468-1331.2009.02841.x. Epub 2009 Nov 17. Eur J Neurol. 2010. PMID: 19922456

8

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Eiberg H, et al. Among authors: nielsen je, nielsen im. Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696388

9

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes.

Vinther-Jensen T, Nielsen TT, Budtz-Jørgensen E, Larsen IU, Hansen MM, Hasholt L, Hjermind LE, Nielsen JE, Nørremølle A. Vinther-Jensen T, et al. Among authors: nielsen tt, nielsen je. Clin Genet. 2016 Mar;89(3):320-7. doi: 10.1111/cge.12628. Epub 2015 Jul 17. Clin Genet. 2016. PMID: 26081309

10

4p16.3 haplotype modifying age at onset of Huntington disease.

Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L. Nørremølle A, et al. Among authors: nielsen je. Clin Genet. 2009 Mar;75(3):244-50. doi: 10.1111/j.1399-0004.2008.01136.x. Clin Genet. 2009. PMID: 19250382

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