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Results: 1 to 20 of 131

1.

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.

PMID:
22096584
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22451505
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.
5.

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.

PMID:
21762456
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
22396310
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
24016602
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
21514436
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
20817456
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
24102355
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.

Tanabe K, Takei K.

J Cell Biol. 2009 Jun 15;185(6):939-48. doi: 10.1083/jcb.200803153.

PMID:
19528294
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
20858595
[PubMed - indexed for MEDLINE]
Free Article
15.

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N.

Neurology. 2007 Jul 17;69(3):291-5.

PMID:
17636067
[PubMed - indexed for MEDLINE]
16.

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J, Mazanec R, Ridzoň P, Baránková L, Nürnberg G, Nürnberg P, Sticht H, Huehne K, Seeman P, Rautenstrauss B.

J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484. Erratum in: J Neurogenet. 2012 Jun;26(2):252.

PMID:
22091729
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
16585051
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP.

J Biol Chem. 2010 Jul 23;285(30):22753-7. doi: 10.1074/jbc.C110.130013. Epub 2010 Jun 7.

PMID:
20529869
[PubMed - indexed for MEDLINE]
Free PMC Article

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