Nielsen TT - Search Results

1

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.

Clayton EL, Mizielinska S, Edgar JR, Nielsen TT, Marshall S, Norona FE, Robbins M, Damirji H, Holm IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium; Isaacs AM. Clayton EL, et al. Among authors: nielsen tt, nielsen je. Acta Neuropathol. 2015 Oct;130(4):511-23. doi: 10.1007/s00401-015-1475-3. Epub 2015 Sep 10. Acta Neuropathol. 2015. PMID: 26358247 Free PMC article.

2

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

3

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

4

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.

Nielsen TT, Mardosiene S, Løkkegaard A, Stokholm J, Ehrenfels S, Bech S, Friberg L, Nielsen JK, Nielsen JE. Nielsen TT, et al. Among authors: nielsen jk, nielsen je. BMC Neurol. 2012 Aug 13;12:73. doi: 10.1186/1471-2377-12-73. BMC Neurol. 2012. PMID: 22889412 Free PMC article.

5

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT. Vinther-Jensen T, et al. Among authors: nielsen tt, nielsen je. Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047744 Free PMC article.

6

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.

Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A; Frontotemporal dementia Research in Jutland Association (FReJA) consortium. Stokholm J, et al. Among authors: nielsen tt, nielsen je. J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):170-6. doi: 10.1136/jnnp-2012-303813. Epub 2012 Nov 10. J Neurol Neurosurg Psychiatry. 2013. PMID: 23142962

7

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.

Nielsen TT, Svenstrup K, Duno M, Nielsen JE. Nielsen TT, et al. Among authors: nielsen je. Spinal Cord. 2014 Jan;52(1):77-9. doi: 10.1038/sc.2013.116. Epub 2013 Oct 15. Spinal Cord. 2014. PMID: 24126854

8

Antisense gene silencing: therapy for neurodegenerative disorders?

Nielsen TT, Nielsen JE. Nielsen TT, et al. Among authors: nielsen je. Genes (Basel). 2013 Sep 10;4(3):457-84. doi: 10.3390/genes4030457. Genes (Basel). 2013. PMID: 24705213 Free PMC article.

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

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Svenstrup K, Nielsen TT, Aidt F, Rostgaard N, Duno M, Wibrand F, Vinther-Jensen T, Law I, Vissing J, Roos P, Hjermind LE, Nielsen JE. Svenstrup K, et al. Among authors: nielsen tt, nielsen je. Cerebellum. 2017 Feb;16(1):62-67. doi: 10.1007/s12311-016-0765-1. Cerebellum. 2017. PMID: 26868664

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