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8 risultati 1
Postprint
Consortium of Swiss Academic Libraries

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations

Bachmann, Christoph ; Jungbluth, Heinz ; Muntoni, Francesco ; Manzur, Adnan Y. ; Zorzato, Francesco ; Treves, Susan

In: Human Molecular Genetics, 2017, vol. 26, no. 2, p. 320-332

Postprint
Consortium of Swiss Academic Libraries

Phosphoinositides and Charcot-Marie-Tooth disease: New keys to old questions

Suter, U.

In: Cellular and Molecular Life Sciences, 2007, vol. 64, no. 24, p. 3261-3265

Postprint
Consortium of Swiss Academic Libraries

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

Niemann, Axel ; Berger, Philipp ; Suter, Ueli

In: NeuroMolecular Medicine, 2006, vol. 8, no. 1-2, p. 217-241

Postprint
Consortium of Swiss Academic Libraries

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2

Tersar, Kristian ; Boentert, Matthias ; Berger, Philipp ; Bonneick, Sonja ; Wessig, Carsten ; Toyka, Klaus V. ; Young, Peter ; Suter, Ueli

In: Human Molecular Genetics, 2007, vol. 16, no. 24, p. 2991-3001

Postprint
Consortium of Swiss Academic Libraries

An animal model for Charcot-Marie-Tooth disease type 4B1

Bonneick, Sonja ; Boentert, Matthias ; Berger, Philipp ; Atanasoski, Suzana ; Mantei, Ned ; Wessig, Carsten ; Toyka, Klaus V. ; Young, Peter ; Suter, Ueli

In: Human Molecular Genetics, 2005, vol. 14, no. 23, p. 3685-3695

Postprint
Consortium of Swiss Academic Libraries

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1

Berger, Philipp ; Bonneick, Sonja ; Willi, Susan ; Wymann, Matthias ; Suter, Ueli

In: Human Molecular Genetics, 2002, vol. 11, no. 13, p. 1569-1579

Postprint
Consortium of Swiss Academic Libraries

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

Berger, Philipp ; Berger, Imre ; Schaffitzel, Christiane ; Tersar, Kristian ; Volkmer, Benjamin ; Suter, Ueli

In: Human Molecular Genetics, 2006, vol. 15, no. 4, p. 569-579

Postprint
Consortium of Swiss Academic Libraries

Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

Laporte, Jocelyn ; Guiraud-Chaumeil, Christophe ; Vincent, Marie-Claire ; Mandel, Jean-Louis ; Tanner, Stephan M. ; Liechti-Gallati, Sabina ; Wallgren-Pettersson, Carina ; Dahl, Niklas ; Kress, Wolfram ; Bolhuis, Pieter A. ; Fardeau, Michel ; Samson, Françoise ; Bertini, Enrico

In: Human Molecular Genetics, 1997, vol. 6, no. 9, p. 1505-1511

8 risultati 1