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Items: 33

1.

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Keskin I, Birve A, Berdynski M, Hjertkvist K, Rofougaran R, Nilsson TK, Glass JD, Marklund SL, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):457-463. doi: 10.1080/21678421.2017.1301481. Epub 2017 Mar 21.

PMID:
28325066
2.

A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden.

Ingre C, Wuolikainen A, Marklund SL, Birve A, Press R, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):452-7. doi: 10.3109/21678421.2016.1159223. Epub 2016 Mar 22.

PMID:
27002425
3.

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.

Keskin I, Forsgren E, Lange DJ, Weber M, Birve A, Synofzik M, Gilthorpe JD, Andersen PM, Marklund SL.

PLoS One. 2016 Feb 26;11(2):e0150133. doi: 10.1371/journal.pone.0150133. eCollection 2016.

4.

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.

Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Jonsson P, Birve A, Marklund SL, Graffmo KS, Forsberg K, Brännström T, Andersen PM.

Hum Mol Genet. 2015 Jun 1;24(11):3133-42. doi: 10.1093/hmg/ddv064. Epub 2015 Feb 23.

PMID:
25712133
5.

The Drosophila midkine/pleiotrophin homologues Miple1 and Miple2 affect adult lifespan but are dispensable for alk signaling during embryonic gut formation.

Hugosson F, Sjögren C, Birve A, Hedlund L, Eriksson T, Palmer RH.

PLoS One. 2014 Nov 7;9(11):e112250. doi: 10.1371/journal.pone.0112250. eCollection 2014.

6.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH.

Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19.

7.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.

Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C.

J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4.

8.

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.

Ingre C, Pinto S, Birve A, Press R, Danielsson O, de Carvalho M, Guđmundsson G, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):620-7. doi: 10.3109/21678421.2013.822515. Epub 2013 Aug 23.

PMID:
23971766
9.

PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.

Eschbach J, Schwalenstöcker B, Soyal SM, Bayer H, Wiesner D, Akimoto C, Nilsson AC, Birve A, Meyer T, Dupuis L, Danzer KM, Andersen PM, Witting A, Ludolph AC, Patsch W, Weydt P.

Hum Mol Genet. 2013 Sep 1;22(17):3477-84. doi: 10.1093/hmg/ddt202. Epub 2013 May 12.

PMID:
23669350
10.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany.

Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.

Eur J Neurol. 2013 Mar;20(3):540-6. doi: 10.1111/ene.12031. Epub 2012 Dec 6.

PMID:
23217123
11.

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH.

Neurobiol Aging. 2013 Jun;34(6):1708.e1-6. doi: 10.1016/j.neurobiolaging.2012.10.009. Epub 2012 Nov 8.

12.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.

Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.

Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.

PMID:
23062601
13.

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.

Graffmo KS, Forsberg K, Bergh J, Birve A, Zetterström P, Andersen PM, Marklund SL, Brännström T.

Hum Mol Genet. 2013 Jan 1;22(1):51-60. doi: 10.1093/hmg/dds399. Epub 2012 Oct 1.

PMID:
23026746
14.

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.

Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, Nilsson AC, Alstermark H, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):26-9. doi: 10.3109/17482968.2012.725415. Epub 2012 Sep 17.

PMID:
22985429
15.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium.

Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5.

16.

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernández-Santiago R, Kaugesaar T, Schöls L, Marklund SL, Andersen PM.

Hum Mol Genet. 2012 Aug 15;21(16):3568-74. doi: 10.1093/hmg/dds188. Epub 2012 May 16.

PMID:
22595972
17.

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH.

Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Review.

18.

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.

Weber M, Neuwirth C, Thierbach J, Schweikert K, Czaplinski A, Petersen J, Jung HH, Birve A, Marklund SL, Andersen PM.

J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):351-3. doi: 10.1136/jnnp.2011.241349. Epub 2011 Jun 23. No abstract available.

PMID:
21700728
19.

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.

Brotherton T, Polak M, Kelly C, Birve A, Andersen P, Marklund SL, Glass JD.

Amyotroph Lateral Scler. 2011 May;12(3):215-9. doi: 10.3109/17482968.2010.531279. Epub 2010 Nov 12.

PMID:
21073275
20.

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.

Birve A, Neuwirth C, Weber M, Marklund SL, Nilsson AC, Jonsson PA, Andersen PM.

Hum Mol Genet. 2010 Nov 1;19(21):4201-6. doi: 10.1093/hmg/ddq338. Epub 2010 Aug 13.

PMID:
20709807
21.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH.

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

PMID:
20685689
22.

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse.

Taes I, Goris A, Lemmens R, van Es MA, van den Berg LH, Chio A, Traynor BJ, Birve A, Andersen P, Slowik A, Tomik B, Brown RH Jr, Shaw CE, Al-Chalabi A, Boonen S, Van Den Bosch L, Dubois B, Van Damme P, Robberecht W.

Neurology. 2010 May 25;74(21):1687-93. doi: 10.1212/WNL.0b013e3181e042f7.

23.

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis.

Bogaert E, Goris A, Van Damme P, Geelen V, Lemmens R, van Es MA, van den Berg LH, Sleegers K, Verpoorten N, Timmerman V, De Jonghe P, Van Broeckhoven C, Traynor BJ, Landers JE, Brown RH Jr, Glass JD, Al-Chalabi A, Shaw CE, Birve A, Andersen PM, Slowik A, Tomik B, Melki J, Robberecht W, Van Den Bosch L.

Neurobiol Aging. 2012 Feb;33(2):418-20. doi: 10.1016/j.neurobiolaging.2010.03.007. Epub 2010 Apr 20.

24.

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis.

van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):562-6. doi: 10.1136/jnnp.2009.181453. Epub 2009 Dec 3.

PMID:
19965850
25.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

Van Es MA, Van Vught PW, Veldink JH, Andersen PM, Birve A, Lemmens R, Cronin S, Van Der Kooi AJ, De Visser M, Schelhaas HJ, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke JH, Ophoff RA, Van Den Berg LH.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042.

PMID:
19922138
26.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH.

Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.

PMID:
19734901
27.

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH.

Nat Genet. 2008 Jan;40(1):29-31. Epub 2007 Dec 16.

PMID:
18084291
28.

In vivo analysis of Drosophila SU(Z)12 function.

Chen S, Birve A, Rasmuson-Lestander A.

Mol Genet Genomics. 2008 Feb;279(2):159-70. Epub 2007 Nov 22.

PMID:
18034266
29.

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.

van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2007 Oct;6(10):869-77.

PMID:
17827064
30.
31.

Miple1 and miple2 encode a family of MK/PTN homologues in Drosophila melanogaster.

Englund C, Birve A, Falileeva L, Grabbe C, Palmer RH.

Dev Genes Evol. 2006 Jan;216(1):10-8. Epub 2005 Oct 12.

PMID:
16220264
32.

A 1-megadalton ESC/E(Z) complex from Drosophila that contains polycomblike and RPD3.

Tie F, Prasad-Sinha J, Birve A, Rasmuson-Lestander A, Harte PJ.

Mol Cell Biol. 2003 May;23(9):3352-62.

33.

Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants.

Birve A, Sengupta AK, Beuchle D, Larsson J, Kennison JA, Rasmuson-Lestander A, Müller J.

Development. 2001 Sep;128(17):3371-9.

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