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Items: 1 to 20 of 22

1.

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

Toft A, Birk S, Ballegaard M, Dunø M, Hjermind LE, Nielsen JE, Svenstrup K.

J Neurol. 2019 Mar;266(3):735-744. doi: 10.1007/s00415-019-09196-1. Epub 2019 Jan 12.

PMID:
30637453
2.

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

Vaeth S, Christensen R, Dunø M, Lildballe DL, Thorsen K, Vissing J, Svenstrup K, Hertz JM, Andersen H, Jensen UB.

Eur J Med Genet. 2019 Jan;62(1):1-8. doi: 10.1016/j.ejmg.2018.04.003. Epub 2018 Apr 11.

PMID:
29653220
3.

July 2017 ENCALS statement on edaravone.

Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T, Grosskreutz J, Holmøy T, Ingre C, Karlsborg M, Kleveland G, Koch JC, Koritnik B, KuzmaKozakiewicz M, Laaksovirta H, Ludolph A, McDermott C, Meyer T, Mitre Ropero B, Mora Pardina J, Nygren I, Petri S, Povedano Panades M, Salachas F, Shaw P, Silani V, Staaf G, Svenstrup K, Talbot K, Tysnes OB, Van Damme P, van der Kooi A, Weber M, Weydt P, Wolf J, Hardiman O, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):471-474. doi: 10.1080/21678421.2017.1369125. Epub 2017 Oct 4. Review. No abstract available.

4.

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.

Cerebellum. 2017 Feb;16(1):62-67. doi: 10.1007/s12311-016-0765-1.

PMID:
26868664
5.

[Genetic counselling is relevant in familial as well as sporadic cases of amyotrophic lateral sclerosis].

Lindquist SG, Dunø M, Svenstrup K, Nielsen JE.

Ugeskr Laeger. 2014 Oct 20;176(43). pii: V01140023. Review. Danish.

PMID:
25353674
6.

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.

Nielsen TT, Svenstrup K, Duno M, Nielsen JE.

Spinal Cord. 2014 Jan;52(1):77-9. doi: 10.1038/sc.2013.116. Epub 2013 Oct 15.

PMID:
24126854
7.

CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.

Roos P, Svenstrup K, Danielsen ER, Thomsen C, Nielsen JE.

Acta Neurol Scand. 2014 May;129(5):330-4. doi: 10.1111/ane.12188. Epub 2013 Oct 1.

PMID:
24117163
8.

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.

Jønch AE, Danielsen ER, Thomsen C, Meden P, Svenstrup K, Nielsen JE.

BMC Neurol. 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108.

9.

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.

J Neurol Sci. 2012 Oct 15;321(1-2):100-2. doi: 10.1016/j.jns.2012.07.036. Epub 2012 Aug 3.

PMID:
22868089
10.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE.

Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4.

PMID:
22650353
11.

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E.

Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.

PMID:
21953594
12.

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.

Clin Genet. 2012 Sep;82(3):256-63. doi: 10.1111/j.1399-0004.2011.01745.x. Epub 2011 Jul 18.

PMID:
21696388
13.

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE.

Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22.

PMID:
21599812
14.

The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.

Bech S, Nørremølle A, Winge K, Hasholt L, Tommerup N, Svenstrup K, Nielsen JE, Hjermind LE.

Parkinsonism Relat Disord. 2011 Jun;17(5):398-9. doi: 10.1016/j.parkreldis.2011.01.016. Epub 2011 Feb 25. No abstract available.

PMID:
21353620
15.

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.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):666-72. doi: 10.1136/jnnp.2009.180315. Epub 2009 Dec 1.

PMID:
19955111
16.

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.

J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6.

PMID:
19423133
17.

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.

Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium.

Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15.

PMID:
18484988
18.

Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia.

Scheuer KH, Svenstrup K, Jennum P, Rogvi-Hansen Bá, Werdelin L, Fenger K, Nielsen JE.

Eur J Neurol. 2007 Jun;14(6):663-6.

PMID:
17539946
19.

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

Hansen J, Svenstrup K, Ang D, Nielsen MN, Christensen JH, Gregersen N, Nielsen JE, Georgopoulos C, Bross P.

J Neurol. 2007 Jul;254(7):897-900. Epub 2007 Apr 10.

PMID:
17420924
20.

Postnatal development of beta-cells in rats. Proposed explanatory model.

Svenstrup K, Skau M, Pakkenberg B, Buschard K, Bock T.

APMIS. 2002 May;110(5):372-8.

PMID:
12076254

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