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Jump to: Article | Working Paper ArticleHam, Daniel J. and Börsch, Anastasiya and Lin, Shuo and Thürkauf, Marco and Weihrauch, Martin and Reinhard, Judith R. and Delezie, Julien and Battilana, Fabienne and Wang, Xueyong and Kaiser, Marco S. and Guridi, Maitea and Sinnreich, Michael and Rich, Mark M. and Mittal, Nitish and Tintignac, Lionel A. and Handschin, Christoph and Zavolan, Mihaela and Rüegg, Markus A.. (2020) The neuromuscular junction is a focal point of mTORC1 signaling in sarcopenia. Nature Communications, 11 (1). p. 4510. Brockhoff, Marielle and Rion, Nathalie and Chojnowska, Kathrin and Wiktorowicz, Tatiana and Eickhorst, Christopher and Erne, Beat and Frank, Stephan and Angelini, Corrado and Furling, Denis and Rüegg, Markus A. and Sinnreich, Michael and Castets, Perrine. (2017) Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. Journal of Clinical Investigation, 127 (2). pp. 549-563. Herrendorff, R. and Faleschini, M. T. and Stiefvater, A. and Erne, B. and Wiktorowicz, T. and Kern, F. and Hamburger, M. and Potterat, O. and Kinter, J. and Sinnreich, M.. (2016) Identification of plant-derived alkaloids with therapeutic potential for myotonic dystrophy type I. Journal of Biological Chemistry, 291 (33). pp. 17165-17177. Castets, Perrine and Frank, Stephan and Sinnreich, Michael and Rüegg, Markus A.. (2016) "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders. Journal of Neuromuscular Diseases, 3 (2). pp. 127-155. Sunderkotter, C. and Nast, A. and Worm, M. and Dengler, R. and Dorner, T. and Ganter, H. and Hohlfeld, R. and Melms, A. and Melzer, N. and Rosler, K. and Schmidt, J. and Sinnreich, M. and Walter, M. C. and Wanschitz, J. and Wiendl, H.. (2016) Guidelines on dermatomyositis-excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology. J Dtsch Dermatol Ges, 14 (3). pp. 321-338. Probstel, A. K. and Schaller, A. and Lieb, J. and Hench, J. and Frank, S. and Fuhr, P. and Kappos, L. and Sinnreich, M.. (2016) Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. Neurol Genet, 2 (6). e121. Hafner, P. and Bonati, U. and Erne, B. and Schmid, M. and Rubino, D. and Pohlman, U. and Peters, T. and Rutz, E. and Frank, S. and Neuhaus, C. and Deuster, S. and Gloor, M. and Bieri, O. and Fischmann, A. and Sinnreich, M. and Gueven, N. and Fischer, D.. (2016) Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. PLoS ONE, 11 (1). e0147634. Athanasopoulou, I. M. and Rasenack, M. and Grimm, C. and Axer, H. and Sinnreich, M. and Decard, B. F. and Grimm, A.. (2016) Ultrasound of the nerves — An appropriate addition to nerve conduction studies to differentiate paraproteinemic neuropathies. Journal of the Neurological Sciences, 362. pp. 188-195. Wiktorowicz, Tatiana and Kinter, Jochen and Kobuke, Kazuhiro and Campbell, Kevin P. and Sinnreich, Michael. (2015) Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam). Skeletal Muscle, 5. p. 32. Sinnreich, Michael. (2015) [Muscle pain: what should you think?]. Revue Médicale Suisse, 11 (459). pp. 319-320. Petersen, Jens A. and Kuntzer, Thierry and Fischer, Dirk and von der Hagen, Maja and Huebner, Angela and Kana, Veronika and Lobrinus, Johannes A. and Kress, Wolfram and Rushing, Elisabeth J. and Sinnreich, Michael and Jung, Hans H.. (2015) Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. BMC Neurology, 15. p. 182. Grimm, Alexander and Decard, Bernhard F. and Athanasopoulou, Ioanna and Schweikert, Kathi and Sinnreich, Michael and Axer, Hubertus. (2015) Nerve ultrasound for differentiation between amyotrophic lateral sclerosis and multifocal motor neuropathy. Journal of Neurology, 262 (4). pp. 870-880. Bonati, Ulrike and Hafner, Patricia and Schadelin, Sabine and Schmid, Maurice and Naduvilekoot Devasia, Arjith and Schroeder, Jonas and Zuesli, Stephanie and Pohlman, Urs and Neuhaus, Cornelia and Klein, Andrea and Sinnreich, Michael and Haas, Tanja and Gloor, Monika and Bieri, Oliver and Fischmann, Arne and Fischer, Dirk. (2015) Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscular Disorders, 25 (9). pp. 679-685. Kinter, Jochen and Sinnreich, Michael. (2014) Molecular targets to treat muscular dystrophies. Swiss medical weekly, 144. w13916. Castets, Perrine and Lin, Shuo and Rion, Nathalie and Di Fulvio, Sabrina and Romanino, Klaas and Guridi, Maitea and Frank, Stephan and Tintignac, Lionel A. and Sinnreich, Michael and Ruegg, Markus A.. (2013) Sustained activation of mTORC1 in skeletal muscle inhibits constitutive and starvation-induced autophagy and causes a severe, late-onset myopathy. Cell metabolism, 17 (5). pp. 731-744. O'Ferrall, E. K. and Gendron, D. and Guiot, M. C. and Hall, J. and Sinnreich, M.. (2013) Lower motor neuron syndrome due to cauda equina hypertrophy with onion bulbs. Muscle & nerve, Vol. 48, H. 2. pp. 301-305. Ozcelik, S. and Fraser, G. and Castets, P. and Schaeffer, V. and Skachokova, Z. and Breu, K. and Clavaguera, F. and Sinnreich, M. and Kappos, L. and Goedert, M. and Tolnay, M. and Winkler, D. T.. (2013) Rapamycin attenuates the progression of tau pathology in P301S tau transgenic mice. PLoS ONE, Vol. 8, H. 5 , e62459. Peyer, A. K. and Kinter, J. and Hench, J. and Frank, S. and Fuhr, P. and Thomann, S. and Fischmann, A. and Kneifel, S. and Camano, P. and Munain, A. L. and Sinnreich, M. and Renaud, S.. (2013) Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. Neuromuscular disorders, Vol. 23, H. 2. pp. 149-154. Peyer, A. K. and Abicht, A. and Heinimann, K. and Sinnreich, M. and Fischer, D.. (2013) Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. Neuromuscular disorders, Vol. 23, H. 7. pp. 571-574. Azakir, B. A. and Di Fulvio, S. and Salomon, S. and Brockhoff, M. and Therrien, C. and Sinnreich, M.. (2012) Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules. Journal of biological chemistry, Vol. 287, H. 33. pp. 27629-27636. Azakir, B. A. and Di Fulvio, S. and Kinter, J. and Sinnreich, M.. (2012) Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. Journal of biological chemistry, Vol. 287, H. 13. pp. 10344-10354. Di Fulvio, S. and Azakir, B. A. and Therrien, C. and Sinnreich, M.. (2011) Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. PLoS ONE, Vol. 6, H. 12 , e28563. Kinter, Jochen and Broglio, Laura and Steck, Andreas J. and Tolnay, Markus and Fuhr, Peter and Latov, Norman and Kalbermatten, Daniel and Sinnreich, Michael and Schaeren-Wiemers, Nicole and Renaud, Susanne. (2010) Gene expression profiling in nerve biopsy of vasculitic neuropathy. Journal of neuroimmunology, Vol. 225, H. 1-2. pp. 184-189. Geddes, Maiya R. and Sinnreich, Michael and Chalk, Colin. (2010) Minocycline-induced dermatomyositis. Muscle & nerve, Vol. 41, H. 4. pp. 547-549. Azakir, Bilal A. and Di Fulvio, Sabrina and Therrien, Christian and Sinnreich, Michael. (2010) Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. PLoS ONE, Vol. 5, H. 4 , e10122. Therrien, Christian and Di Fulvio, Sabrina and Pickles, Sarah and Sinnreich, Michael. (2009) Characterization of lipid binding specificities of dysferlin C2 domains reveals novel interactions with phosphoinositides. Biochemistry : a biweekly publication of the American Chemical Society, Vol. 48. pp. 2377-2384. O'Ferrall, Erin K. and Sinnreich, Michael. (2009) The role of muscle biopsy in the age of genetic testing. Current opinion in neurology, Vol. 22, H. 5. pp. 543-553. Nadeau, Amelie and Therrien, Christian and Karpati, George and Sinnreich, Michael. (2008) Danon disease due to a novel splice mutation in the LAMP2 gene. Muscle & nerve, Vol. 37. pp. 338-342. Picard, Martin and Godin, Richard and Sinnreich, Michael and Baril, Jacinthe and Bourbeau, Jean and Perrault, Hélène and Taivassalo, Tanja and Burelle, Yan. (2008) The mitochondrial phenotype of peripheral muscle in chronic obstructive pulmonary disease : disuse or dysfunction? American journal of respiratory and critical care medicine, Vol. 178, H. 10. pp. 1040-1047. Working PaperHam, Daniel J. and Börsch, Anastasyia and Chojnowska, Kathrin and Lin, Shuo and Leuchtmann, Aurel B. and Ham, Alexander S. and Thürkauf, Marco and Delezie, Julien and Furrer, Regula and Burri, Dominik and Sinnreich, Michael and Handschin, Christoph and Tintignac, Lionel A. and Zavolan, Mihaela and Mittal, Nitish and Rüegg, Markus A.. (2021) Distinct and additive effects of calorie restriction and rapamycin in aging skeletal muscle. |