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86 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: hasholt l. Mov Disord. 1996 Sep;11(5):533-41. doi: 10.1002/mds.870110508. Mov Disord. 1996. PMID: 8866494
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
Hasholt L, Sørensen SA, Wandall A, Andersen EB, Arlien-Søborg P. Hasholt L, et al. J Med Genet. 1990 May;27(5):303-6. doi: 10.1136/jmg.27.5.303. J Med Genet. 1990. PMID: 2161929 Free PMC article.
Fabry's disease.
Hasholt L, Wandall A, Sørensen SA. Hasholt L, et al. Clin Genet. 1989 Nov;36(5):335-6. doi: 10.1111/j.1399-0004.1989.tb03208.x. Clin Genet. 1989. PMID: 2513152
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: hasholt l. Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316. Hum Mutat. 1995. PMID: 7599642 No abstract available.
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: hasholt l. Clin Genet. 1995 Mar;47(3):113-7. doi: 10.1111/j.1399-0004.1995.tb03941.x. Clin Genet. 1995. PMID: 7634532
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: hasholt l. Hum Genet. 1995 Mar;95(3):313-8. doi: 10.1007/BF00225200. Hum Genet. 1995. PMID: 7868125
Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families.
Nørremølle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sørensen SA. Nørremølle A, et al. Among authors: hasholt l. Hum Mol Genet. 1993 Sep;2(9):1475-6. doi: 10.1093/hmg/2.9.1475. Hum Mol Genet. 1993. PMID: 8242074
Electrophysiological findings in a Danish family with Machado-Joseph disease.
Colding-Jørgensen E, Sørensen SA, Hasholt L, Lauritzen M. Colding-Jørgensen E, et al. Among authors: hasholt l. Muscle Nerve. 1996 Jun;19(6):743-50. doi: 10.1002/(SICI)1097-4598(199606)19:6<743::AID-MUS9>3.0.CO;2-A. Muscle Nerve. 1996. PMID: 8609925
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. Among authors: hasholt l. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257
High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.
Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J. Larsen LA, et al. Among authors: hasholt l. Hum Genet. 1997 Oct;100(5-6):564-8. doi: 10.1007/s004390050552. Hum Genet. 1997. PMID: 9341871
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