Eiberg H - Search Results

1

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: eiberg h. 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

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: eiberg h. 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

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.

Bech S, Petersen T, Nørremølle A, Gjedde A, Ehlers L, Eiberg H, Hjermind LE, Hasholt L, Lundorf E, Nielsen JE. Bech S, et al. Among authors: eiberg h. Parkinsonism Relat Disord. 2010 Jan;16(1):12-5. doi: 10.1016/j.parkreldis.2009.06.006. Parkinsonism Relat Disord. 2010. PMID: 19595623

4

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: eiberg h. 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

5

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: eiberg h. Hum Mol Genet. 1997 Oct;6(11):1811-6. doi: 10.1093/hmg/6.11.1811. Hum Mol Genet. 1997. PMID: 9302257

6

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: eiberg h. 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.

7

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1.

Koefoed P, Hasholt L, Fenger K, Nielsen JE, Eiberg H, Buschard K, Sørensen SA. Koefoed P, et al. Among authors: eiberg h. Hum Genet. 1998 Nov;103(5):564-9. doi: 10.1007/s004390050870. Hum Genet. 1998. PMID: 9860298

8

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. Among authors: eiberg h. Eur J Neurol. 2004 Dec;11(12):817-24. doi: 10.1111/j.1468-1331.2004.00888.x. Eur J Neurol. 2004. PMID: 15667412

9

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: eiberg h. 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.

10

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Eiberg H, et al. Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696388

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