Selected Publications

Brockhoff M, Rion N, Chojnowska K, Wiktorowicz T, EickhorstC, Erne B, Frank S, Angelini C, Furling D, RüeggMA, Sinnreich M, Castets P. Targeting deregulatedAMPK/mTORC1 pathways improves muscle functionin myotonic dystrophy type I. J Clin Invest. 2017 Feb1;127(2):549–563. doi: 10.1172/JCI89616. Epub 2017Jan 9

Pröbstel AK, Schaller A, Lieb J, Hench J, Frank S, FuhrP, Kappos L, Sinnreich M. Mitochondrial cytopathywith common MELAS mutation presenting as multiplesystem atrophy mimic. Neurol Genet. 2016 Nov17;2(6):e121. eCollection 2016 Dec.

Herrendorff R, Faleschini MT, Stiefvater A, Erne B, WiktorowiczT, Kern F, Hamburger M, Potterat O, Kinter J,Sinnreich M. Identification of Plant-derived Alkaloidswith Therapeutic Potential for Myotonic Dystrophy TypeI. J Biol Chem. 2016 Jun 13. pii: jbc.M115.710616

Wiktorowicz T, Kinter J, Kobuke K, Campbell KP, SinnreichM. Genetic characterization and improved genotypingof the dysferlin-deficient mouse strain Dysf (tm1Kcam).Skelet Muscle. 2015 Oct 13;5:32

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, HuebnerA, Kana V, Lobrinus JA, Kress W, Rushing EJ, SinnreichM, Jung HH. Dysferlinopathy in Switzerland: clinicalphenotypes and potential founder effects. BMCNeurol. 2015 Oct 6;15:182