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Items: 1 to 20 of 97

1.

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

Gibbs EM, Davidson AE, Telfer WR, Feldman EL, Dowling JJ.

Dis Model Mech. 2014 Jan;7(1):157-61. doi: 10.1242/dmm.012286. Epub 2013 Oct 17.

2.

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J.

Nat Genet. 2007 Sep;39(9):1134-9. Epub 2007 Aug 5.

PMID:
17676042
3.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.

4.

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ.

J Mol Med (Berl). 2013 Jun;91(6):727-37. doi: 10.1007/s00109-013-0994-4. Epub 2013 Jan 22.

PMID:
23338057
5.

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.

Am J Pathol. 2011 May;178(5):2224-35. doi: 10.1016/j.ajpath.2011.01.054.

7.

Two dynamin-2 genes are required for normal zebrafish development.

Gibbs EM, Davidson AE, Trickey-Glassman A, Backus C, Hong Y, Sakowski SA, Dowling JJ, Feldman EL.

PLoS One. 2013;8(2):e55888. doi: 10.1371/journal.pone.0055888. Epub 2013 Feb 13.

8.

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

Kierdaszuk B, Berdynski M, Karolczak J, Redowicz MJ, Zekanowski C, Kaminska AM.

Neuromuscul Disord. 2013 Mar;23(3):219-28. doi: 10.1016/j.nmd.2012.12.007. Epub 2013 Jan 30.

PMID:
23374900
9.

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S.

J Neurol. 2011 Jun;258(6):1085-90. doi: 10.1007/s00415-010-5889-5. Epub 2011 Jan 9.

PMID:
21221624
10.

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J.

PLoS One. 2011;6(11):e27498. doi: 10.1371/journal.pone.0027498. Epub 2011 Nov 11.

11.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

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.

Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25.

12.

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J.

Neuromuscul Disord. 2007 Dec;17(11-12):955-9. Epub 2007 Sep 6.

PMID:
17825552
13.

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P.

Hum Mutat. 2009 Oct;30(10):1419-27. doi: 10.1002/humu.21086.

PMID:
19623537
14.

Dynamin 2 the rescue for centronuclear myopathy.

Demonbreun AR, McNally EM.

J Clin Invest. 2014 Mar;124(3):976-8. doi: 10.1172/JCI74434. Epub 2014 Feb 24.

15.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J.

J Clin Invest. 2014 Mar;124(3):1350-63. doi: 10.1172/JCI71206. Epub 2014 Feb 24.

16.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN.

Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.

PMID:
20227276
17.

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Liewluck T, Lovell TL, Bite AV, Engel AG.

Neuromuscul Disord. 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273.

18.

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Jan;20(1):49-52. doi: 10.1016/j.nmd.2009.10.005. Epub 2009 Nov 22.

PMID:
19932620
19.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

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.

Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

PMID:
20927630
20.

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.

Sidiropoulos PN, Miehe M, Bock T, Tinelli E, Oertli CI, Kuner R, Meijer D, Wollscheid B, Niemann A, Suter U.

Brain. 2012 May;135(Pt 5):1395-411. doi: 10.1093/brain/aws061. Epub 2012 Mar 26.

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