
Publications
Scientific articles and outputs from PGNM teams and collaborators.
About
PGNM publications reflect the scientific output of the laboratory’s teams and collaborators, spanning fundamental mechanisms, disease models, technologies and translational research.
2009
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy.,
J Cell Biol 2009 Dec; 187(6): 859-74.
2009
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.,
Proc Natl Acad Sci U S A 2009 Nov; 106(44): 18763-8.
2009
Differentiation driven changes in the dynamic organization of Basal transcription initiation.,
PLoS Biol 2009 Oct; 7(10): e1000220.
2009
Probing PML body function in ALT cells reveals spatiotemporal requirements for telomere recombination,
Proc Natl Acad Sci U S A 2009 Sep; 106(37): 15726-31.
2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.,
Am J Hum Genet 2009 Aug; 85(2): 155-67.
2009
Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding.,
Neurobiol Dis 2009 Jul; 35(1): 14-23.
2009
Hemoglobin and hematocrit are not such good candidates to detect autologous blood doping,
International Journal of Hematology.
2009
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.,
J Clin Invest 2009 Jan; 119(1): 91-8.
2009
Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons.,
PLoS One 2009 ; 4(4): e5390.