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1 |
Material Type: Article
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Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performanceRuiz, Alexis ; Dror, Erez ; Handschin, Christoph ; Furrer, Regula ; Perez-Schindler, Joaquin ; Bachmann, Christoph ; Treves, Susan ; Zorzato, FrancescoScientific reports, 2018-01-12, Vol.8 (1), p.636-14 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performanceRuiz, Alexis ; Dror, Erez ; Handschin, Christoph ; Furrer, Regula ; Perez-Schindler, Joaquin ; Bachmann, Christoph ; Treves, Susan ; Zorzato, FrancescoScientific reports, 2018-01-12, Vol.8 (1) [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Extraocular muscle function is impaired in ryr3 -/- miceEckhardt, Jan ; Bachmann, Christoph ; Sekulic-Jablanovic, Marijana ; Enzmann, Volker ; Park, Ki Ho ; Ma, Jianjie ; Takeshima, Hiroshi ; Zorzato, Francesco ; Treves, SusanThe Journal of general physiology, 2019-07-01, Vol.151 (7), p.929-943 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesBachmann, Christoph ; Noreen, Faiza ; Voermans, N.C ; Schaer, Primo L ; Vissing, J ; Fock, J.M ; Kusters, B ; Zorzato, F ; Treves, SHuman mutation, 2019, Vol.40 (7), p.962-974 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityZaharieva, Irina T ; Sarkozy, Anna ; Munot, Pinki ; Manzur, Adnan ; O'Grady, Gina ; Rendu, John ; Malfatti, Eduardo ; Amthor, Helge ; Servais, Laurent ; Urtizberea, J. Andoni ; Neto, Osorio Abath ; Zanoteli, Edmar ; Donkervoort, Sandra ; Taylor, Juliet ; Dixon, Joanne ; Poke, Gemma ; Foley, A. Reghan ; Holmes, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano‐Roy, Susana ; Romero, Norma B ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R ; Phadke, Rahul ; Sewry, Caroline A ; Bönnemann, Carsten G ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, FrancescoHuman mutation, 2018-12, Vol.39 (12), p.1980-1994 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Cesarean delivery after non‐medically indicated induction of labor: a population based study using different definitions of expectant managementZenzmaier, Christoph ; Pfeifer, Bernhard ; Leitner, Hermann ; König‐Bachmann, MartinaActa obstetricia et gynecologica Scandinavica, 2020-09-03 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Social information in equine movement gestaltsDahl, Christoph D ; Wyss, Christa ; Zuberbühler, Klaus ; Bachmann, IrisAnimal cognition, 2018-07, Vol.21 (4), p.583-594 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Health professionals' views on maternity care for women with physical disabilities: a qualitative studyKönig-Bachmann, Martina ; Zenzmaier, Christoph ; Schildberger, BarbaraBMC health services research, 2019-08-06, Vol.19 (1), p.551-551 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Biochemical and Epigenetic Modifications Occur in Muscles of Patients with Selenoprotein N Related Congenital MyopathyBachmann, Christoph ; Voermans, Nicol ; Jungbluth, Heinz ; Muntoni, Francesco ; Zorzato, Francesco ; Treves, SusanBiophysical journal, 2019-02-15, Vol.116 (3), p.153a-153a [Peer Reviewed Journal]Full text available |
10 |
Material Type: Article
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Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strengthElbaz, Moran ; Ruiz, Alexis ; Bachmann, Christoph ; Eckhardt, Jan ; Pelczar, Pawel ; Venturi, Elisa ; Lindsay, Chris ; Wilson, Abigail D ; Alhussni, Ahmed ; Humberstone, Thomas ; Pietrangelo, Laura ; Boncompagni, Simona ; Sitsapesan, Rebecca ; Treves, Susan ; Zorzato, FrancescoHuman molecular genetics, 2019-09-15, Vol.28 (18), p.2987-2999 [Peer Reviewed Journal]Full text available |