Items where Division is "03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neuromuscular Research (Sinnreich)"

2015

Herrendorff, Ruben. Novel therapeutic approaches for neuromuscular diseases. 2015, Doctoral Thesis, University of Basel, Faculty of Science.

2013

Castets, P. and Lin, S. and Rion, N. and Di Fulvio, S. and Romanino, K. and Guridi, M. and Frank, S. and Tintignac, L. A. and Sinnreich, M. and Ruegg, M. A.. (2013) Sustained activation of mTORC1 in skeletal muscle inhibits constitutive and starvation-induced autophagy and causes a severe, late-onset myopathy. Cell metabolism, Vol. 17, H. 5. pp. 731-744.

Di Fulvio, Sabrina. Characterization of the dysferlin protein and its binding partners reveals rational design for therapeutic strategies for the treatment of dysferlinopathies. 2013, Doctoral Thesis, University of Basel, Faculty of Science.

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 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.

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.

2012

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.

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.

2011

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.

2010

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.

Geddes, Maiya R. and Sinnreich, Michael and Chalk, Colin. (2010) Minocycline-induced dermatomyositis. Muscle & nerve, Vol. 41, H. 4. pp. 547-549.

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.

2009

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.

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.

2008

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.