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Items: 4

1.

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Barman-Aksözen J, C Wiek P, Bansode VB, Koentgen F, Trüb J, Pelczar P, Cinelli P, Schneider-Yin X, Schümperli D, Minder EI.

Dis Model Mech. 2017 Mar 1;10(3):225-233. doi: 10.1242/dmm.027755. Epub 2017 Jan 12.

2.

Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing.

Odermatt P, Trüb J, Furrer L, Fricker R, Marti A, Schümperli D.

Mol Ther. 2016 Oct;24(10):1797-1805. doi: 10.1038/mt.2016.152. Epub 2016 Jul 26.

3.

Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice.

Neve A, Trüb J, Saxena S, Schümperli D.

Mol Cell Neurosci. 2016 Jan;70:30-41. doi: 10.1016/j.mcn.2015.11.007. Epub 2015 Nov 24.

4.

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation.

Meyer K, Marquis J, Trüb J, Nlend Nlend R, Verp S, Ruepp MD, Imboden H, Barde I, Trono D, Schümperli D.

Hum Mol Genet. 2009 Feb 1;18(3):546-55. doi: 10.1093/hmg/ddn382. Epub 2008 Nov 13.

PMID:
19010792

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