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Items: 1 to 50 of 52

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.

Quantitative Measurements of Motor Function in Alzheimer's Disease, Frontotemporal Dementia, and Dementia with Lewy Bodies: A Proof-of-Concept Study.

Jeppesen Kragh F, Bruun M, Budtz-Jørgensen E, Hjermind LE, Schubert R, Reilmann R, Nielsen JE, Hasselbalch SG.

Dement Geriatr Cogn Disord. 2018;46(3-4):168-179. doi: 10.1159/000492860. Epub 2018 Sep 26.

PMID:
30257254
3.

Does arterial hypertension influence the onset of Huntington's disease?

Valcárcel-Ocete L, Fullaondo A, Alkorta-Aranburu G, García-Barcina M, Roos RAC, Hjermind LE, Saft C, Frontali M, Reilmann R, Rickards H; REGISTRY investigators of the European Huntington’s Disease Network (EHDN), Zubiaga AM, Aguirre A.

PLoS One. 2018 May 23;13(5):e0197975. doi: 10.1371/journal.pone.0197975. eCollection 2018.

4.

Defining active progressive multiple sclerosis.

Sellebjerg F, Börnsen L, Ammitzbøll C, Nielsen JE, Vinther-Jensen T, Hjermind LE, von Essen M, Ratzer RL, Soelberg Sørensen P, Romme Christensen J.

Mult Scler. 2017 Nov;23(13):1727-1735. doi: 10.1177/1352458517726592. Epub 2017 Aug 23.

PMID:
28831853
5.

Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1.

Pires C, Schmid B, Petræus C, Poon A, Nimsanor N, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Hyttel P, Freude KK.

Stem Cell Res. 2016 Sep;17(2):285-288. doi: 10.1016/j.scr.2016.08.002. Epub 2016 Aug 7.

6.

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1.

Poon A, Schmid B, Pires C, Nielsen TT, Hjermind LE, Nielsen JE, Holst B, Hyttel P, Freude KK.

Stem Cell Res. 2016 Nov;17(3):466-469. doi: 10.1016/j.scr.2016.09.018. Epub 2016 Sep 24.

7.

Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease.

Vinther-Jensen T, Börnsen L, Budtz-Jørgensen E, Ammitzbøll C, Larsen IU, Hjermind LE, Sellebjerg F, Nielsen JE.

Neurol Neuroimmunol Neuroinflamm. 2016 Sep 28;3(6):e287. eCollection 2016 Dec.

8.

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1.

Li T, Pires C, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Dinnyes A, Holst B, Hyttel P, Freude KK.

Stem Cell Res. 2016 Mar;16(2):334-7. doi: 10.1016/j.scr.2016.01.001. Epub 2016 Jan 14.

9.

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1.

Li T, Pires C, Nielsen TT, Waldemar G, Hjermind LE, Nielsen JE, Dinnyes A, Hyttel P, Freude KK.

Stem Cell Res. 2016 Mar;16(2):229-32. doi: 10.1016/j.scr.2016.01.002. Epub 2016 Jan 14.

10.

Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.

Tubsuwan A, Pires C, Rasmussen MA, Schmid B, Nielsen JE, Hjermind LE, Hall V, Nielsen TT, Waldemar G, Hyttel P, Clausen C, Kitiyanant N, Freude KK, Holst B.

Stem Cell Res. 2016 Jan;16(1):110-2. doi: 10.1016/j.scr.2015.12.015. Epub 2015 Dec 28.

11.

Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.

Rasmussen MA, Hjermind LE, Hasholt LF, Waldemar G, Nielsen JE, Clausen C, Hyttel P, Holst B.

Stem Cell Res. 2016 Jan;16(1):105-9. doi: 10.1016/j.scr.2015.12.012. Epub 2015 Dec 23.

12.

Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT).

Rasmussen MA, Hjermind LE, Hasholt LF, Waldemar G, Nielsen JE, Clausen C, Hyttel P, Holst B.

Stem Cell Res. 2016 Jan;16(1):75-8. doi: 10.1016/j.scr.2015.12.006. Epub 2015 Dec 12.

13.

Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT).

Rasmussen MA, Hjermind LE, Hasholt LF, Waldemar G, Nielsen JE, Clausen C, Hyttel P, Holst B.

Stem Cell Res. 2016 Jan;16(1):70-4. doi: 10.1016/j.scr.2015.12.008. Epub 2015 Dec 12.

14.

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Lindquist SG, Møller LB, Dali CI, Marner L, Kamsteeg EJ, Nielsen JE, Hjermind LE.

Cerebellum. 2017 Feb;16(1):268-271. doi: 10.1007/s12311-016-0786-9.

PMID:
27165044
15.

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.

J Neurol Sci. 2016 Mar 15;362:326-32. doi: 10.1016/j.jns.2016.02.018. Epub 2016 Feb 9.

PMID:
26944172
16.

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
17.

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Bertelsen B, Nazaryan-Petersen L, Sun W, Mehrjouy MM, Xie G, Chen W, Hjermind LE, Taschner PE, Tümer Z.

Genet Med. 2016 May;18(5):494-500. doi: 10.1038/gim.2015.112. Epub 2015 Aug 27.

PMID:
26312826
18.

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes.

Vinther-Jensen T, Nielsen TT, Budtz-Jørgensen E, Larsen IU, Hansen MM, Hasholt L, Hjermind LE, Nielsen JE, Nørremølle A.

Clin Genet. 2016 Mar;89(3):320-7. doi: 10.1111/cge.12628. Epub 2015 Jul 17.

PMID:
26081309
19.

Ubiquitin: a potential cerebrospinal fluid progression marker in Huntington's disease.

Vinther-Jensen T, Simonsen AH, Budtz-Jørgensen E, Hjermind LE, Nielsen JE.

Eur J Neurol. 2015 Oct;22(10):1378-84. doi: 10.1111/ene.12750. Epub 2015 Jun 13.

PMID:
26073975
20.

Familial hemiplegic migraine type 1 associated with parkinsonism: a case report.

Bruun M, Hjermind LE, Thomsen C, Danielsen E, Thomsen LL, Pinborg LH, Khabbazbavani N, Nielsen JE.

Case Rep Neurol. 2015 Apr 14;7(1):84-9. doi: 10.1159/000381827. eCollection 2015 Jan-Apr.

21.

YKL-40 in cerebrospinal fluid in Huntington's disease--a role in pathology or a nonspecific response to inflammation?

Vinther-Jensen T, Budtz-Jørgensen E, Simonsen AH, Nielsen JE, Hjermind LE.

Parkinsonism Relat Disord. 2014 Nov;20(11):1301-3. doi: 10.1016/j.parkreldis.2014.08.011. Epub 2014 Aug 28. No abstract available.

PMID:
25219973
22.

Diagnostic genetic testing for Huntington's disease.

Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN).

Pract Neurol. 2015 Feb;15(1):80-4. doi: 10.1136/practneurol-2013-000790. Epub 2014 Aug 28. Review. No abstract available.

PMID:
25169240
23.

A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington's disease.

Vinther-Jensen T, Larsen IU, Hjermind LE, Budtz-Jørgensen E, Nielsen TT, Nørremølle A, Nielsen JE, Vogel A.

Orphanet J Rare Dis. 2014 Jul 17;9:114. doi: 10.1186/s13023-014-0114-8.

24.

Frontotemporal dementia and its subtypes: a genome-wide association study.

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P.

Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1.

25.

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U.

J Clin Invest. 2014 Jul;124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9.

26.

Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease.

Petersen MH, Budtz-Jørgensen E, Sørensen SA, Nielsen JE, Hjermind LE, Vinther-Jensen T, Nielsen SM, Nørremølle A.

Mitochondrion. 2014 Jul;17:14-21. doi: 10.1016/j.mito.2014.05.001. Epub 2014 May 15.

PMID:
24836434
27.

A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia.

Schjerling L, Hjermind LE, Jespersen B, Madsen FF, Brennum J, Jensen SR, Løkkegaard A, Karlsborg M.

J Neurosurg. 2013 Dec;119(6):1537-45. doi: 10.3171/2013.8.JNS13844. Epub 2013 Oct 11. Erratum in: J Neurosurg. 2014 Jan;120(1):295.

PMID:
24116723
28.

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Bertelsen B, Debes NM, Hjermind LE, Skov L, Brøndum-Nielsen K, Tümer Z.

Neurogenetics. 2013 Nov;14(3-4):197-203. doi: 10.1007/s10048-013-0372-y. Epub 2013 Aug 29.

PMID:
23989977
29.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT.

Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231. Epub 2012 Oct 10.

30.

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
31.

The DJ-1 concentration in cerebrospinal fluid does not differentiate among Parkinsonian syndromes.

Salvesen L, Bech S, Lokkegaard A, Hjermind LE, Nielsen JE, Pakkenberg B, Tanassi JT, Heegaard NH, Winge K.

Parkinsonism Relat Disord. 2012 Aug;18(7):899-901. doi: 10.1016/j.parkreldis.2012.03.013. Epub 2012 Apr 11. No abstract available.

PMID:
22503539
32.

Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes.

Bech S, Hjermind LE, Salvesen L, Nielsen JE, Heegaard NH, Jørgensen HL, Rosengren L, Blennow K, Zetterberg H, Winge K.

Parkinsonism Relat Disord. 2012 Jan;18(1):69-72. doi: 10.1016/j.parkreldis.2011.08.012. Epub 2011 Aug 27.

PMID:
21873100
33.

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
34.

Huntington's disease: effect of memantine on FDG-PET brain metabolism?

Hjermind LE, Law I, Jønch A, Stokholm J, Nielsen JE.

J Neuropsychiatry Clin Neurosci. 2011 Spring;23(2):206-10. doi: 10.1176/appi.neuropsych.23.2.206.

PMID:
21677252
35.

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
36.

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.

J Neurosci Methods. 2010 Aug 30;191(2):244-8. doi: 10.1016/j.jneumeth.2010.06.017. Epub 2010 Jun 25.

PMID:
20599557
37.

Behavioral variant of frontotemporal dementia mimicking Huntington's disease.

Nielsen TR, Bruhn P, Nielsen JE, Hjermind LE.

Int Psychogeriatr. 2010 Jun;22(4):674-7. doi: 10.1017/S1041610210000098. Epub 2010 Feb 22.

PMID:
20170589
38.

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
39.

Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors.

Schultz K, Nilsson K, Nielsen JE, Lindquist SG, Hjermind LE, Andersen BB, Wallin A, Nilsson C, Petersén A.

Eur J Neurol. 2010 Mar;17(3):456-60. doi: 10.1111/j.1468-1331.2009.02841.x. Epub 2009 Nov 17.

PMID:
19922456
40.

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.

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

PMID:
19595623
41.

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
42.

Reduced CSF CART in dementia with Lewy bodies.

Schultz K, Wiehager S, Nilsson K, Nielsen JE, Lindquist SG, Hjermind LE, Andersen BB, Wallin A, Nilsson C, Petersén A.

Neurosci Lett. 2009 Apr 3;453(2):104-6. doi: 10.1016/j.neulet.2009.02.008. Epub 2009 Feb 10.

PMID:
19356602
43.

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

Hjermind LE, Nielsen JE; Dansk Selskab for Bevaegeforstyrrelser.

Ugeskr Laeger. 2008 Mar 17;170(12):1016. Danish. No abstract available.

PMID:
18397634
44.

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.

Eur J Neurol. 2008 May;15(5):525-9. doi: 10.1111/j.1468-1331.2008.02116.x. Epub 2008 Mar 18.

PMID:
18355305
45.

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.

Brain. 2007 Oct;130(Pt 10):2736-45.

PMID:
17898012
46.

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.

J Neurol Sci. 2006 Feb 15;241(1-2):95-8. Epub 2005 Nov 28.

PMID:
16310805
47.

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.

Mov Disord. 2006 May;21(5):679-82.

PMID:
16267845
48.

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Asmus F, Salih F, Hjermind LE, Ostergaard K, Munz M, Kühn AA, Dupont E, Kupsch A, Gasser T.

Ann Neurol. 2005 Nov;58(5):792-7.

PMID:
16240355
49.

[Deep brain stimulation of therapy-refractory, disabling dystonia. Danish Society of Movement Disorders (Danmodis)].

Hjermind LE, Løkkegaard A, Werdelin LM, Regeur L, Jespersen B, Madsen FF, Badakhshani K, Dupont E, Sunde NA, Sørensen JC, Ostergaard K, Karlsborg M.

Ugeskr Laeger. 2005 Mar 21;167(12-13):1378. Danish. No abstract available.

PMID:
15832699
50.

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.

Hjermind LE, Werdelin LM, Eiberg H, Krag-Olsen B, Dupont E, Sørensen SA.

Neurology. 2003 May 13;60(9):1536-9.

PMID:
12743249

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