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For: Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 2011;121:253-66. [PMID: 20927630 DOI: 10.1007/s00401-010-0754-2] [Cited by in Crossref: 97] [Cited by in F6Publishing: 88] [Article Influence: 8.8] [Reference Citation Analysis]
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2 Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol 2018;14:151-67. [PMID: 29391587 DOI: 10.1038/nrneurol.2017.191] [Cited by in Crossref: 115] [Cited by in F6Publishing: 90] [Article Influence: 28.8] [Reference Citation Analysis]
3 Schartner V, Laporte J, Böhm J. Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies. J Neuromuscul Dis 2019;6:289-305. [PMID: 31356215 DOI: 10.3233/JND-180314] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
4 Liu N, Bezprozvannaya S, Shelton JM, Frisard MI, Hulver MW, McMillan RP, Wu Y, Voelker KA, Grange RW, Richardson JA. Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy. J Clin Invest. 2011;121:3258-3268. [PMID: 21737882 DOI: 10.1172/jci46267] [Cited by in Crossref: 104] [Cited by in F6Publishing: 75] [Article Influence: 9.5] [Reference Citation Analysis]
5 Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-ladame C, Hummel M, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-berguerand N. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med 2011;17:720-5. [DOI: 10.1038/nm.2374] [Cited by in Crossref: 210] [Cited by in F6Publishing: 187] [Article Influence: 19.1] [Reference Citation Analysis]
6 Ali T, Bednarska J, Vassilopoulos S, Tran M, Diakonov IA, Ziyadeh-Isleem A, Guicheney P, Gorelik J, Korchev YE, Reilly MM, Bitoun M, Shevchuk A. Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin. FASEB J 2019;33:8504-18. [PMID: 31017801 DOI: 10.1096/fj.201802635R] [Cited by in Crossref: 10] [Cited by in F6Publishing: 4] [Article Influence: 3.3] [Reference Citation Analysis]
7 Davies EM, Sheffield DA, Tibarewal P, Fedele CG, Mitchell CA, Leslie NR. The PTEN and Myotubularin Phosphoinositide 3-Phosphatases: Linking Lipid Signalling to Human Disease. In: Balla T, Wymann M, York JD, editors. Phosphoinositides I: Enzymes of Synthesis and Degradation. Dordrecht: Springer Netherlands; 2012. pp. 281-336. [DOI: 10.1007/978-94-007-3012-0_8] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 1.4] [Reference Citation Analysis]
8 Fujise K, Okubo M, Abe T, Yamada H, Nishino I, Noguchi S, Takei K, Takeda T. Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy. J Biol Chem 2021;296:100077. [PMID: 33187981 DOI: 10.1074/jbc.RA120.015184] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
9 Echaniz-laguna A, Biancalana V, Böhm J, Tranchant C, Mandel J, Laporte J. Adult centronuclear myopathies: A hospital-based study. Revue Neurologique 2013;169:625-31. [DOI: 10.1016/j.neurol.2012.12.006] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
10 Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromuscul Disord 2017;27:396-407. [PMID: 28214268 DOI: 10.1016/j.nmd.2017.01.009] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 4.0] [Reference Citation Analysis]
11 Silva-Rojas R, Nattarayan V, Jaque-Fernandez F, Gomez-Oca R, Menuet A, Reiss D, Goret M, Messaddeq N, Lionello VM, Kretz C, Cowling BS, Jacquemond V, Laporte J. Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes. Mol Ther 2021:S1525-0016(21)00400-7. [PMID: 34371181 DOI: 10.1016/j.ymthe.2021.08.006] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 Laporte J, Cowling B. [Decreasing dynamin 2 to rescue myotubular myopathy]. Med Sci (Paris) 2014;30:621-4. [PMID: 25014449 DOI: 10.1051/medsci/20143006008] [Reference Citation Analysis]
13 Chin YH, Lee A, Kan HW, Laiman J, Chuang MC, Hsieh ST, Liu YW. Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. Hum Mol Genet 2015;24:5542-54. [PMID: 26199319 DOI: 10.1093/hmg/ddv285] [Cited by in Crossref: 36] [Cited by in F6Publishing: 27] [Article Influence: 5.1] [Reference Citation Analysis]
14 Usha Kalyani R, Perinbam K, Jeyanthi P, Al-Dhabi NA, Valan Arasu M, Esmail GA, Kim YO, Kim H, Kim HJ. Fer1L5, a Dysferlin Homologue Present in Vesicles and Involved in C2C12 Myoblast Fusion and Membrane Repair. Biology (Basel) 2020;9:E386. [PMID: 33182221 DOI: 10.3390/biology9110386] [Reference Citation Analysis]
15 Ravenscroft G, Laing NG, Bönnemann CG. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain 2015;138:246-68. [PMID: 25552303 DOI: 10.1093/brain/awu368] [Cited by in Crossref: 52] [Cited by in F6Publishing: 42] [Article Influence: 6.5] [Reference Citation Analysis]
16 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscul Disord 2012;22:453-62. [PMID: 22226685 DOI: 10.1016/j.nmd.2011.12.003] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 1.9] [Reference Citation Analysis]
17 Tronchère H, Bolino A, Laporte J, Payrastre B. Myotubularins and associated neuromuscular diseases. Clinical Lipidology 2012;7:151-62. [DOI: 10.2217/clp.12.7] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.6] [Reference Citation Analysis]
18 Stewart MD, Lopez S, Nagandla H, Soibam B, Benham A, Nguyen J, Valenzuela N, Wu HJ, Burns AR, Rasmussen TL, Tucker HO, Schwartz RJ. Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray. Dis Model Mech 2016;9:347-59. [PMID: 26935107 DOI: 10.1242/dmm.022491] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 3.7] [Reference Citation Analysis]
19 Wu T, Shi Z, Baumgart T. Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. PLoS One 2014;9:e93060. [PMID: 24755653 DOI: 10.1371/journal.pone.0093060] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 3.3] [Reference Citation Analysis]
20 Zhang SS, Shaw RM. Multilayered regulation of cardiac ion channels. Biochim Biophys Acta 2013;1833:876-85. [PMID: 23103513 DOI: 10.1016/j.bbamcr.2012.10.020] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
21 Hohendahl A, Roux A, Galli V. Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. J Struct Biol 2016;196:37-47. [PMID: 27343996 DOI: 10.1016/j.jsb.2016.06.015] [Cited by in Crossref: 16] [Cited by in F6Publishing: 11] [Article Influence: 2.7] [Reference Citation Analysis]
22 Smith LL, Gupta VA, Beggs AH. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet 2014;23:3566-78. [PMID: 24549043 DOI: 10.1093/hmg/ddu067] [Cited by in Crossref: 24] [Cited by in F6Publishing: 15] [Article Influence: 3.0] [Reference Citation Analysis]
23 Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barthélémy I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ. Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. Am J Pathol 2017;187:441-56. [PMID: 27939133 DOI: 10.1016/j.ajpath.2016.10.002] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
24 Adam J, Basnet N, Mizuno N. Structural insights into the cooperative remodeling of membranes by amphiphysin/BIN1. Sci Rep 2015;5:15452. [PMID: 26487375 DOI: 10.1038/srep15452] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 4.3] [Reference Citation Analysis]
25 Mercier L, Böhm J, Fekonja N, Allio G, Lutz Y, Koch M, Goetz JG, Laporte J. In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy. Intravital 2016;5:e1168553. [PMID: 28243519 DOI: 10.1080/21659087.2016.1168553] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
26 Rossi D, Pierantozzi E, Amadsun DO, Buonocore S, Rubino EM, Sorrentino V. The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites. Biomolecules 2022;12:488. [DOI: 10.3390/biom12040488] [Reference Citation Analysis]
27 Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet 2012;21:811-25. [PMID: 22068590 DOI: 10.1093/hmg/ddr512] [Cited by in Crossref: 43] [Cited by in F6Publishing: 42] [Article Influence: 3.9] [Reference Citation Analysis]
28 Jungbluth H, Wallgren-Pettersson C, Laporte JF; Centronuclear (Myotubular) myopathy Consortium. 198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands. Neuromuscul Disord 2013;23:1033-43. [PMID: 24070817 DOI: 10.1016/j.nmd.2013.08.006] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
29 Sewry CA, Wallgren-Pettersson C. Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 2017;43:5-23. [PMID: 27976420 DOI: 10.1111/nan.12369] [Cited by in Crossref: 44] [Cited by in F6Publishing: 31] [Article Influence: 11.0] [Reference Citation Analysis]
30 Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain 2014;137:3160-70. [PMID: 25260562 DOI: 10.1093/brain/awu272] [Cited by in Crossref: 61] [Cited by in F6Publishing: 55] [Article Influence: 7.6] [Reference Citation Analysis]
31 Gómez-Oca R, Cowling BS, Laporte J. Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances. Int J Mol Sci 2021;22:11377. [PMID: 34768808 DOI: 10.3390/ijms222111377] [Reference Citation Analysis]
32 Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J. Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J 2013;27:3384-94. [PMID: 23695157 DOI: 10.1096/fj.12-220947] [Cited by in Crossref: 48] [Cited by in F6Publishing: 39] [Article Influence: 5.3] [Reference Citation Analysis]
33 Shichiji M, Biancalana V, Fardeau M, Hogrel JY, Osawa M, Laporte J, Romero NB. Extensive morphological and immunohistochemical characterization in myotubular myopathy. Brain Behav 2013;3:476-86. [PMID: 24381816 DOI: 10.1002/brb3.147] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 2.2] [Reference Citation Analysis]
34 Zanoteli E. Centronuclear myopathy: advances in genetic understanding and potential for future treatments. Expert Opinion on Orphan Drugs 2018;6:375-84. [DOI: 10.1080/21678707.2018.1480366] [Reference Citation Analysis]
35 Mim C, Unger VM. Membrane curvature and its generation by BAR proteins. Trends Biochem Sci 2012;37:526-33. [PMID: 23058040 DOI: 10.1016/j.tibs.2012.09.001] [Cited by in Crossref: 170] [Cited by in F6Publishing: 152] [Article Influence: 17.0] [Reference Citation Analysis]
36 Maurer M, Mary J, Guillaud L, Fender M, Pelé M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthélémy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 2012;7:e46408. [PMID: 23071563 DOI: 10.1371/journal.pone.0046408] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 1.5] [Reference Citation Analysis]
37 Barone V, Randazzo D, Del Re V, Sorrentino V, Rossi D. Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers. J Muscle Res Cell Motil 2015;36:501-15. [DOI: 10.1007/s10974-015-9421-5] [Cited by in Crossref: 26] [Cited by in F6Publishing: 28] [Article Influence: 3.7] [Reference Citation Analysis]
38 Royer B, Hnia K, Gavriilidis C, Tronchère H, Tosch V, Laporte J. The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies. EMBO Rep 2013;14:907-15. [PMID: 23917616 DOI: 10.1038/embor.2013.119] [Cited by in Crossref: 41] [Cited by in F6Publishing: 36] [Article Influence: 4.6] [Reference Citation Analysis]
39 Laury-Kleintop LD, Mulgrew JR, Heletz I, Nedelcoviciu RA, Chang MY, Harris DM, Koch WJ, Schneider MD, Muller AJ, Prendergast GC. Cardiac-specific disruption of Bin1 in mice enables a model of stress- and age-associated dilated cardiomyopathy. J Cell Biochem 2015;116:2541-51. [PMID: 25939245 DOI: 10.1002/jcb.25198] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]
40 Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Hum Mol Genet 2021;29:3882-91. [PMID: 33355670 DOI: 10.1093/hmg/ddaa276] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
41 Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech 2012;5:852-9. [PMID: 22645112 DOI: 10.1242/dmm.009746] [Cited by in Crossref: 36] [Cited by in F6Publishing: 35] [Article Influence: 3.6] [Reference Citation Analysis]
42 Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J. BIN1 modulation in vivo rescues dynamin-related myopathy. Proc Natl Acad Sci U S A 2022;119:e2109576119. [PMID: 35217605 DOI: 10.1073/pnas.2109576119] [Reference Citation Analysis]
43 Aghbolaghi AG, Lechpammer M. A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. Autops Case Rep 2017;7:43-8. [PMID: 28740838 DOI: 10.4322/acr.2017.020] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
44 Prokic I, Cowling BS, Laporte J. Amphiphysin 2 (BIN1) in physiology and diseases. J Mol Med 2014;92:453-63. [DOI: 10.1007/s00109-014-1138-1] [Cited by in Crossref: 78] [Cited by in F6Publishing: 68] [Article Influence: 9.8] [Reference Citation Analysis]
45 Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on Congenital Myopathies in Adulthood. Int J Mol Sci 2020;21:E3694. [PMID: 32456280 DOI: 10.3390/ijms21103694] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Fu Y, Hong T. BIN1 regulates dynamic t-tubule membrane. Biochim Biophys Acta 2016;1863:1839-47. [PMID: 26578114 DOI: 10.1016/j.bbamcr.2015.11.004] [Cited by in Crossref: 28] [Cited by in F6Publishing: 26] [Article Influence: 4.0] [Reference Citation Analysis]
47 Phadke R. Myopathology of Congenital Myopathies: Bridging the Old and the New. Seminars in Pediatric Neurology 2019;29:55-70. [DOI: 10.1016/j.spen.2019.01.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
48 Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr. 2017;43:101. [PMID: 29141652 DOI: 10.1186/s13052-017-0419-z] [Cited by in Crossref: 37] [Cited by in F6Publishing: 26] [Article Influence: 7.4] [Reference Citation Analysis]
49 Fraysse B, Guicheney P, Bitoun M. Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. Biol Open 2016;5:1691-6. [PMID: 27870637 DOI: 10.1242/bio.020263] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
50 Wu T, Baumgart T. BIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2. Biochemistry 2014;53:7297-309. [PMID: 25350771 DOI: 10.1021/bi501082r] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 2.6] [Reference Citation Analysis]
51 Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol 2015;262:1728-40. [PMID: 25957634 DOI: 10.1007/s00415-015-7757-9] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 4.9] [Reference Citation Analysis]
52 Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci 2014;6:339. [PMID: 25566070 DOI: 10.3389/fnagi.2014.00339] [Cited by in Crossref: 72] [Cited by in F6Publishing: 67] [Article Influence: 9.0] [Reference Citation Analysis]
53 Fongy A, Falcone S, Lainé J, Prudhon B, Martins-Bach A, Bitoun M. Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. Sci Rep 2019;9:1580. [PMID: 30733559 DOI: 10.1038/s41598-018-38184-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
54 Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. J Clin Invest 2017;127:4477-87. [PMID: 29130937 DOI: 10.1172/JCI90542] [Cited by in Crossref: 34] [Cited by in F6Publishing: 19] [Article Influence: 6.8] [Reference Citation Analysis]
55 Zhao M, Maani N, Dowling JJ. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. Neurotherapeutics 2018;15:966-75. [PMID: 30426359 DOI: 10.1007/s13311-018-00686-0] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 7.3] [Reference Citation Analysis]
56 Dowling JJ, Lawlor MW, Dirksen RT. Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics 2014;11:773-85. [PMID: 25168790 DOI: 10.1007/s13311-014-0300-3] [Cited by in Crossref: 46] [Cited by in F6Publishing: 39] [Article Influence: 6.6] [Reference Citation Analysis]
57 Lionello VM, Nicot A, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS. Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. Sci Transl Med 2019;11:eaav1866. [DOI: 10.1126/scitranslmed.aav1866] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
58 Al-Qusairi L, Laporte J. T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle 2011;1:26. [PMID: 21797990 DOI: 10.1186/2044-5040-1-26] [Cited by in Crossref: 107] [Cited by in F6Publishing: 88] [Article Influence: 9.7] [Reference Citation Analysis]
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