Hasholt L - Search Results

1

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.

Mosbech MB, Olsen AS, Neess D, Ben-David O, Klitten LL, Larsen J, Sabers A, Vissing J, Nielsen JE, Hasholt L, Klein AD, Tsoory MM, Hjalgrim H, Tommerup N, Futerman AH, Møller RS, Færgeman NJ. Mosbech MB, et al. Among authors: hasholt l. Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. Ann Clin Transl Neurol. 2014. PMID: 25356388 Free PMC article.

2

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE. Svenstrup K, et al. Among authors: hasholt l. J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6. J Neurol Sci. 2009. PMID: 19423133

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: hasholt l. 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

Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting.

Nielsen SM, Vinther-Jensen T, Nielsen JE, Nørremølle A, Hasholt L, Hjermind LE, Josefsen K. Nielsen SM, et al. Among authors: hasholt l. J Neurol Sci. 2016 Mar 15;362:326-32. doi: 10.1016/j.jns.2016.02.018. Epub 2016 Feb 9. J Neurol Sci. 2016. PMID: 26944172

5

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

6

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Nørremølle A, Hasholt L. Nielsen JE, et al. Among authors: hasholt l. Prenat Diagn. 2004 May;24(5):363-6. doi: 10.1002/pd.875. Prenat Diagn. 2004. PMID: 15164410

7

Reduced gluconeogenesis and lactate clearance in Huntington's disease.

Josefsen K, Nielsen SM, Campos A, Seifert T, Hasholt L, Nielsen JE, Nørremølle A, Skotte NH, Secher NH, Quistorff B. Josefsen K, et al. Among authors: hasholt l. Neurobiol Dis. 2010 Dec;40(3):656-62. doi: 10.1016/j.nbd.2010.08.009. Epub 2010 Aug 19. Neurobiol Dis. 2010. PMID: 20727971

8

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE. Bech S, et al. Among authors: hasholt l. Mov Disord. 2020 Dec;35(12):2343-2347. doi: 10.1002/mds.28244. Epub 2020 Sep 19. Mov Disord. 2020. PMID: 32949189 Free PMC article.

9

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

10

4p16.3 haplotype modifying age at onset of Huntington disease.

Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L. Nørremølle A, et al. Among authors: hasholt l. Clin Genet. 2009 Mar;75(3):244-50. doi: 10.1111/j.1399-0004.2008.01136.x. Clin Genet. 2009. PMID: 19250382

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