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135 results
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Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.
Nielsen JE, Sørensen SA, Hasholt L, Nørremølle A. Nielsen JE, et al. Among authors: sorensen sa. Mov Disord. 1996 Sep;11(5):533-41. doi: 10.1002/mds.870110508. Mov Disord. 1996. PMID: 8866494
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Hjermind LE, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, Friberg L, Regeur L, Nielsen JE, Sørensen SA. Hjermind LE, et al. Among authors: sorensen sa. Mov Disord. 2006 May;21(5):679-82. doi: 10.1002/mds.20773. Mov Disord. 2006. PMID: 16267845
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
Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.
Nielsen JE, Krabbe K, Jennum P, Koefoed P, Jensen LN, Fenger K, Eiberg H, Hasholt L, Werdelin L, Sørensen SA. Nielsen JE, et al. Among authors: sorensen sa. J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):61-6. doi: 10.1136/jnnp.64.1.61. J Neurol Neurosurg Psychiatry. 1998. PMID: 9436729 Free PMC article.
Chromosome 3 linked frontotemporal dementia (FTD-3).
Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, Spillantini MG, Fisher EM, Collinge J, Sorensen SA. Gydesen S, et al. Among authors: sorensen sa. Neurology. 2002 Nov 26;59(10):1585-94. doi: 10.1212/01.wnl.0000034763.54161.1f. Neurology. 2002. PMID: 12451202
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.
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease.
Gydesen S, Hagen S, Klinken L, Abelskov J, Sørensen SA. Gydesen S, et al. Among authors: sorensen sa. Acta Psychiatr Scand. 1987 Sep;76(3):276-84. doi: 10.1111/j.1600-0447.1987.tb02896.x. Acta Psychiatr Scand. 1987. PMID: 3673655
Huntington's chorea: general practitioners' knowledge about individuals' at-risk status.
Sørensen SA, Fenger K. Sørensen SA, et al. Scand J Prim Health Care. 1989 Mar;7(1):49-52. doi: 10.3109/02813438909103671. Scand J Prim Health Care. 1989. PMID: 2524869
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