Guidelines for the use and interpretation of assays for monitoring autophagy Autophagy 12 (1), 1-222, 2016 | 13851* | 2016 |
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ... Nature genetics 13 (2), 175-182, 1996 | 722 | 1996 |
Mutations in dynamin 2 cause dominant centronuclear myopathy M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ... Nature genetics 37 (11), 1207-1209, 2005 | 501 | 2005 |
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy AS Nicot, A Toussaint, V Tosch, C Kretz, C Wallgren-Pettersson, ... Nature genetics 39 (9), 1134-1139, 2007 | 422 | 2007 |
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy C Fugier, AF Klein, C Hammer, S Vassilopoulos, Y Ivarsson, A Toussaint, ... Nature medicine 17 (6), 720-725, 2011 | 363 | 2011 |
Centronuclear (myotubular) myopathy H Jungbluth, C Wallgren-Pettersson, J Laporte Orphanet journal of rare diseases 3, 1-13, 2008 | 346 | 2008 |
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease … H Azzedine, A Bolino, T Taieb, N Birouk, M Di Duca, A Bouhouche, ... The American Journal of Human Genetics 72 (5), 1141-1153, 2003 | 338 | 2003 |
Control of autophagy initiation by phosphoinositide 3‐phosphatase Jumpy I Vergne, E Roberts, RA Elmaoued, V Tosch, MA Delgado, ... The EMBO journal 28 (15), 2244-2258, 2009 | 320 | 2009 |
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway F Blondeau, J Laporte, S Bodin, G Superti-Furga, B Payrastre, JL Mandel Human molecular genetics 9 (15), 2223-2229, 2000 | 290 | 2000 |
MTM1 mutations in X‐linked myotubular myopathy J Laporte, V Biancalana, SM Tanner, W Kress, V Schneider, ... Human mutation 15 (5), 393-409, 2000 | 247 | 2000 |
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice A Buj-Bello, V Laugel, N Messaddeq, H Zahreddine, J Laporte, ... Proceedings of the National Academy of Sciences 99 (23), 15060-15065, 2002 | 246 | 2002 |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ... Neurology 81 (14), 1205-1214, 2013 | 225 | 2013 |
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases L Al-Qusairi, J Laporte Skeletal muscle 1, 1-11, 2011 | 219 | 2011 |
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy J Böhm, F Chevessier, AM De Paula, C Koch, S Attarian, C Feger, ... The American Journal of Human Genetics 92 (2), 271-278, 2013 | 215 | 2013 |
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase L Al-Qusairi, N Weiss, A Toussaint, C Berbey, N Messaddeq, C Kretz, ... Proceedings of the National Academy of Sciences 106 (44), 18763-18768, 2009 | 212 | 2009 |
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases J Laporte, F Bedez, A Bolino, JL Mandel Human molecular genetics 12 (suppl_2), R285-R292, 2003 | 208 | 2003 |
Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4 YJM de Kok, ER Vossenaar, CWRJ Cremers, N Dahl, J Laporte, L Jia Hu, ... Human molecular genetics 5 (9), 1229-1235, 1996 | 200 | 1996 |
Measurement of the top quark pair production charge asymmetry in proton-proton collisions at = 7 TeV using the ATLAS detector G Aad, T Abajyan, B Abbott, J Abdallah, S Abdel Khalek, R Aben, B Abi, ... Journal of High Energy Physics 2014 (2), 1-38, 2014 | 198 | 2014 |
A phosphoinositide conversion mechanism for exit from endosomes K Ketel, M Krauss, AS Nicot, D Puchkov, M Wieffer, R Müller, ... Nature 529 (7586), 408-412, 2016 | 195 | 2016 |
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3, 5-bisphosphate interaction K Tsujita, T Itoh, T Ijuin, A Yamamoto, A Shisheva, J Laporte, T Takenawa Journal of Biological Chemistry 279 (14), 13817-13824, 2004 | 176 | 2004 |