Nielsen JE - Search Results

1

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: nielsen tt, nielsen je. 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.

2

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. Prenat Diagn. 2004 May;24(5):363-6. doi: 10.1002/pd.875. Prenat Diagn. 2004. PMID: 15164410

3

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: nielsen je. 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

4

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: nielsen je. Mov Disord. 2006 May;21(5):679-82. doi: 10.1002/mds.20773. Mov Disord. 2006. PMID: 16267845

5

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.

Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE. Lindquist SG, et al. Among authors: nielsen je. J Neurol Sci. 2006 Feb 15;241(1-2):95-8. doi: 10.1016/j.jns.2005.10.004. Epub 2005 Nov 28. J Neurol Sci. 2006. PMID: 16310805

6

[Hereditary Parkinson disease. The Danish Society of Movement Disorders].

Hjermind LE, Nielsen JE; Dansk Selskab for Bevaegeforstyrrelser. Hjermind LE, et al. Among authors: nielsen je. Ugeskr Laeger. 2008 Mar 17;170(12):1016. Ugeskr Laeger. 2008. PMID: 18397634 Danish. No abstract available.

7

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: nielsen je. 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

8

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: nielsen je. Parkinsonism Relat Disord. 2010 Jan;16(1):12-5. doi: 10.1016/j.parkreldis.2009.06.006. Parkinsonism Relat Disord. 2010. PMID: 19595623

9

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.

Svenstrup K, Giraud G, Boespflug-Tanguy O, Danielsen ER, Thomsen C, Rasmussen K, Law I, Vogel A, Stokholm J, Crone C, Hjermind LE, Nielsen JE. Svenstrup K, et al. Among authors: nielsen je. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):666-72. doi: 10.1136/jnnp.2009.180315. Epub 2009 Dec 1. J Neurol Neurosurg Psychiatry. 2010. PMID: 19955111

10

Behavioral variant of frontotemporal dementia mimicking Huntington's disease.

Nielsen TR, Bruhn P, Nielsen JE, Hjermind LE. Nielsen TR, et al. Among authors: nielsen je. Int Psychogeriatr. 2010 Jun;22(4):674-7. doi: 10.1017/S1041610210000098. Epub 2010 Feb 22. Int Psychogeriatr. 2010. PMID: 20170589

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