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Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.
Nørremølle A, Sørensen SA, Fenger K, Hasholt L. Nørremølle A, et al. Among authors: sorensen sa. Clin Genet. 1995 Mar;47(3):113-7. doi: 10.1111/j.1399-0004.1995.tb03941.x. Clin Genet. 1995. PMID: 7634532
Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density.
Mersebach H, Johansson JO, Rasmussen AK, Bengtsson BA, Rosenberg K, Hasholt L, Sørensen SA, Sørensen SS, Feldt-Rasmussen U. Mersebach H, et al. Among authors: sorensen sa, sorensen ss. Genet Med. 2007 Dec;9(12):812-8. doi: 10.1097/gim.0b013e31815cb197. Genet Med. 2007. PMID: 18091430
Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
Hjermind LE, Werdelin LM, Sørensen SA. Hjermind LE, et al. Among authors: sorensen sa. Eur J Hum Genet. 2002 Mar;10(3):213-6. doi: 10.1038/sj.ejhg.5200782. Eur J Hum Genet. 2002. PMID: 11973627
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: sorensen sa. 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
Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease.
Petersen MH, Budtz-Jørgensen E, Sørensen SA, Nielsen JE, Hjermind LE, Vinther-Jensen T, Nielsen SM, Nørremølle A. Petersen MH, et al. Among authors: sorensen sa. Mitochondrion. 2014 Jul;17:14-21. doi: 10.1016/j.mito.2014.05.001. Epub 2014 May 15. Mitochondrion. 2014. PMID: 24836434
Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis.
Nørremølle A, Grunnet M, Hasholt L, Sørensen SA. Nørremølle A, et al. Among authors: sorensen sa. J Neurosci Res. 2003 Jan 1;71(1):132-7. doi: 10.1002/jnr.10468. J Neurosci Res. 2003. PMID: 12478622
Antisense downregulation of mutant huntingtin in a cell model.
Hasholt L, Abell K, Nørremølle A, Nellemann C, Fenger K, Sørensen SA. Hasholt L, et al. Among authors: sorensen sa. J Gene Med. 2003 Jun;5(6):528-38. doi: 10.1002/jgm.378. J Gene Med. 2003. PMID: 12797118
Exclusion mapping in familial non-specific dementia.
Brown J, Gydesen S, Sorensen SA, Brun A, Duff K, Houlden H, Fidani L, Kullkarni S, Cummings J, Goate A, et al. Brown J, et al. Among authors: sorensen sa. Dementia. 1993 May-Aug;4(3-4):163-6. doi: 10.1159/000107317. Dementia. 1993. PMID: 8401786
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
Madsen KM, Hasholt L, Sørensen SA, van Loo A, Vanholder R. Madsen KM, et al. Among authors: sorensen sa. Scand J Clin Lab Invest. 1996 Apr;56(2):177-82. doi: 10.3109/00365519609088605. Scand J Clin Lab Invest. 1996. PMID: 8743111
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Madsen KM, Hasholt L, Sørensen SA, Fermér ML, Dahl N. Madsen KM, et al. Among authors: sorensen sa. Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316. Hum Mutat. 1995. PMID: 7599642 No abstract available.
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