Hjermind LE - Search Results

1

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Svenstrup K, Nielsen TT, Aidt F, Rostgaard N, Duno M, Wibrand F, Vinther-Jensen T, Law I, Vissing J, Roos P, Hjermind LE, Nielsen JE. Svenstrup K, et al. Among authors: hjermind le. Cerebellum. 2017 Feb;16(1):62-67. doi: 10.1007/s12311-016-0765-1. Cerebellum. 2017. PMID: 26868664

2

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

3

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: hjermind le. 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

4

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.

Hjermind LE, Vissing J, Asmus F, Krag T, Lochmüller H, Walter MC, Erdal J, Blake DJ, Nielsen JE. Hjermind LE, et al. Eur J Neurol. 2008 May;15(5):525-9. doi: 10.1111/j.1468-1331.2008.02116.x. Epub 2008 Mar 18. Eur J Neurol. 2008. PMID: 18355305

5

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

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

6

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: hjermind le. 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

7

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

8

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: hjermind le. 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

9

Behavioral variant of frontotemporal dementia mimicking Huntington's disease.

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

10

Proteomic investigations of the ventriculo-lumbar gradient in human CSF.

Simonsen AH, Bech S, Laursen I, Salvesen L, Winge K, Waldemar G, Werdelin L, Nielsen JE, McGuire JN, Hjermind LE. Simonsen AH, et al. Among authors: hjermind le. J Neurosci Methods. 2010 Aug 30;191(2):244-8. doi: 10.1016/j.jneumeth.2010.06.017. Epub 2010 Jun 25. J Neurosci Methods. 2010. PMID: 20599557

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