|1.||Laporte, Jocelyn: 22 articles (11/2014 - 09/2002)|
|2.||Beggs, Alan H: 11 articles (08/2014 - 07/2008)|
|3.||Buj-Bello, Anna: 10 articles (06/2014 - 09/2002)|
|4.||Payrastre, Bernard: 8 articles (04/2013 - 07/2003)|
|5.||Hnia, Karim: 7 articles (11/2014 - 01/2011)|
|6.||Tronchère, Hélène: 7 articles (10/2013 - 09/2002)|
|7.||Pierson, Christopher R: 6 articles (08/2014 - 07/2008)|
|8.||Kretz, Christine: 6 articles (03/2014 - 11/2006)|
|9.||Mandel, Jean-Louis: 6 articles (08/2013 - 09/2002)|
|10.||Lawlor, Michael W: 5 articles (06/2014 - 02/2011)|
|1.||Congenital Structural Myopathies (Centronuclear Myopathy)
01/01/2012 - "Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice."
08/01/2013 - "Mutations in the phosphoinositide phosphatase myotubularin (MTM1) results in X-linked myotubular/centronuclear myopathy (XLMTM), characterized by a severe decrease in muscle mass and strength in patients and murine models. "
06/01/2013 - "Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish."
05/01/2013 - "Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombination and shown that myotubularin is essential for skeletal muscle. "
01/01/2012 - "Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). "
|2.||Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
11/01/2002 - "We screened the coding region of the myotubularin-related protein 2 gene in a Turkish consanguineous Charcot-Marie-Tooth disease family compatible with linkage to chromosome 11q22. "
11/01/2002 - "Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. "
11/01/2002 - "A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths."
03/01/2001 - "Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy."
02/15/2006 - "Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. "
|3.||Colonic Neoplasms (Colon Cancer)
|4.||Muscular Diseases (Myopathy)
06/01/2015 - "This devastating congenital myopathy is caused by mutation in the myotubularin (MTM1) gene. "
01/01/2011 - "We show that the myotubularin (mtm) phosphoinositide phosphatase is required for integrin-mediated myofiber attachments in Drosophila melanogaster, and that mtm-depleted myofibers exhibit hallmarks of human XLMTM myopathy. "
05/10/2005 - "Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations."
01/01/1999 - "A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy."
06/01/2012 - "X-linked recessive myotubular myopathy is a severe congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. "
|5.||Peripheral Nervous System Diseases (PNS Diseases)
03/25/2008 - "Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice."
08/01/2006 - "Mutations in several myotubularin genes lead to myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. "
07/15/2003 - "Charcot-Marie-Tooth disease type 4B1, CMT4B1, is a severe, autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. "
08/01/2008 - "The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 and MTMR13 and the PtdIns(3,5)P(2) 5-phosphatase SAC3/FIG4 are implicated in Charcot-Marie-Tooth peripheral neuropathies. "
02/01/2002 - "To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. "
|2.||Lamin Type A (Lamin A)
|3.||Small Interfering RNA (siRNA)
|4.||Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)
|5.||X-linked Myotubular myopathy
|7.||Proteins (Proteins, Gene)
|10.||Phosphoric Monoester Hydrolases (Phosphatases)