Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 108

1.

Dynamin-2 in nervous system disorders.

González-Jamett AM, Haro-Acuña V, Momboisse F, Caviedes P, Bevilacqua JA, Cárdenas AM.

J Neurochem. 2014 Jan;128(2):210-23. doi: 10.1111/jnc.12455. Epub 2013 Oct 23. Review.

2.

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.

3.

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
5.

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M.

J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Epub 2010 Feb 3. Review.

PMID:
20127478
6.

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

Chin YH, Lee A, Kan HW, Laiman J, Chuang MC, Hsieh ST, Liu YW.

Hum Mol Genet. 2015 Oct 1;24(19):5542-54. doi: 10.1093/hmg/ddv285. Epub 2015 Jul 21.

PMID:
26199319
7.

Common membrane trafficking defects of disease-associated dynamin 2 mutations.

Liu YW, Lukiyanchuk V, Schmid SL.

Traffic. 2011 Nov;12(11):1620-33. doi: 10.1111/j.1600-0854.2011.01250.x. Epub 2011 Aug 5.

8.

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.

9.

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.

10.

A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.

James NG, Digman MA, Ross JA, Barylko B, Wang L, Li J, Chen Y, Mueller JD, Gratton E, Albanesi JP, Jameson DM.

Biochim Biophys Acta. 2014 Jan;1840(1):315-21. doi: 10.1016/j.bbagen.2013.09.001. Epub 2013 Sep 7.

11.

Role of dynamin 2 in the disassembly of focal adhesions.

Briñas L, Vassilopoulos S, Bonne G, Guicheney P, Bitoun M.

J Mol Med (Berl). 2013 Jul;91(7):803-9. doi: 10.1007/s00109-013-1040-2. Epub 2013 Apr 23. Review.

PMID:
23609221
12.

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
13.

Dynamin-2 function and dysfunction along the secretory pathway.

González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cárdenas AM.

Front Endocrinol (Lausanne). 2013 Sep 18;4:126. doi: 10.3389/fendo.2013.00126. Review.

14.

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.

15.

A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

Durieux AC, Vassilopoulos S, Lainé J, Fraysse B, Briñas L, Prudhon B, Castells J, Freyssenet D, Bonne G, Guicheney P, Bitoun M.

Traffic. 2012 Jun;13(6):869-79. doi: 10.1111/j.1600-0854.2012.01348.x. Epub 2012 Apr 3.

16.

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, Romero NB.

Brain. 2006 Jun;129(Pt 6):1463-9. Epub 2006 Apr 3.

17.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P.

Brain. 2009 Jul;132(Pt 7):1741-52. doi: 10.1093/brain/awp115. Epub 2009 Jun 5.

18.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

19.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.

Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16.

PMID:
16227997
20.

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.

Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P.

Neuromuscul Disord. 2008 Apr;18(4):334-8. doi: 10.1016/j.nmd.2008.01.005. Epub 2008 Apr 3.

PMID:
18394888
Items per page

Supplemental Content

Write to the Help Desk