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385 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. Mov Disord. 1996 Sep;11(5):533-41. doi: 10.1002/mds.870110508. Mov Disord. 1996. PMID: 8866494
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA. Nielsen JE, et al. Eur J Neurol. 2004 Dec;11(12):817-24. doi: 10.1111/j.1468-1331.2004.00888.x. Eur J Neurol. 2004. PMID: 15667412
Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.
Nielsen JE, Jennum P, Fenger K, Sørensen SA, Fuglsang-Frederiksen A. Nielsen JE, et al. Eur J Neurol. 2001 Jul;8(4):335-9. doi: 10.1046/j.1468-1331.2001.00249.x. Eur J Neurol. 2001. PMID: 11422430
Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
Jensen LN, Gerstenberg T, Kallestrup EB, Koefoed P, Nordling J, Nielsen JE. Jensen LN, et al. Among authors: nielsen je. J Neurol Neurosurg Psychiatry. 1998 Nov;65(5):693-6. doi: 10.1136/jnnp.65.5.693. J Neurol Neurosurg Psychiatry. 1998. PMID: 9810939 Free PMC article.
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. 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.
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Sørensen SA. Nielsen JE, et al. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.
Nørremølle A, Nielsen JE, Sørensen SA, Hasholt L. Nørremølle A, et al. Among authors: nielsen je. Hum Genet. 1995 Mar;95(3):313-8. doi: 10.1007/BF00225200. Hum Genet. 1995. PMID: 7868125
Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome.
Nielsen JE, Jensen LN, Krabbe K. Nielsen JE, et al. J Neurol Neurosurg Psychiatry. 1995 Sep;59(3):318-21. doi: 10.1136/jnnp.59.3.318. J Neurol Neurosurg Psychiatry. 1995. PMID: 7673967 Free PMC article.
Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease.
Vinther-Jensen T, Simonsen AH, Budtz-Jørgensen E, Hjermind LE, Nielsen JE. Vinther-Jensen T, et al. Among authors: nielsen je. Eur J Neurol. 2015 Oct;22(10):1378-84. doi: 10.1111/ene.12750. Epub 2015 Jun 13. Eur J Neurol. 2015. PMID: 26073975
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
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