Andersen PM - Search Results

1

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: andersen pm. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381

2

CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees.

Jonsson PA, Bäckstrand A, Andersen PM, Jacobsson J, Parton M, Shaw C, Swingler R, Shaw PJ, Robberecht W, Ludolph AC, Siddique T, Skvortsova VI, Marklund SL. Jonsson PA, et al. Among authors: andersen pm. Neurobiol Dis. 2002 Aug;10(3):327-33. doi: 10.1006/nbdi.2002.0508. Neurobiol Dis. 2002. PMID: 12270693

3

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM. Felbecker A, et al. Among authors: andersen pm. J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7. doi: 10.1136/jnnp.2009.192310. J Neurol Neurosurg Psychiatry. 2010. PMID: 20460594 Free article.

4

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. Blauw HM, et al. Among authors: andersen pm. Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4. Hum Mol Genet. 2010. PMID: 20685689

5

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. Birve A, et al. Among authors: andersen pm. Hum Mol Genet. 2010 Nov 1;19(21):4201-6. doi: 10.1093/hmg/ddq338. Epub 2010 Aug 13. Hum Mol Genet. 2010. PMID: 20709807

6

Novel TARDBP mutations in Nordic ALS patients.

Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. Chiang HH, et al. Among authors: andersen pm. J Hum Genet. 2012 May;57(5):316-9. doi: 10.1038/jhg.2012.24. Epub 2012 Mar 29. J Hum Genet. 2012. PMID: 22456481

7

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. Synofzik M, et al. Among authors: andersen pm. Hum Mol Genet. 2012 Aug 15;21(16):3568-74. doi: 10.1093/hmg/dds188. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595972

8

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. Graffmo KS, et al. Among authors: andersen pm. Hum Mol Genet. 2013 Jan 1;22(1):51-60. doi: 10.1093/hmg/dds399. Epub 2012 Oct 1. Hum Mol Genet. 2013. PMID: 23026746

9

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. Weishaupt JH, et al. Among authors: andersen pm. Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10. Neurobiol Aging. 2013. PMID: 23062601

10

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. Eschbach J, et al. Among authors: andersen pm. Hum Mol Genet. 2013 Sep 1;22(17):3477-84. doi: 10.1093/hmg/ddt202. Epub 2013 May 12. Hum Mol Genet. 2013. PMID: 23669350

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