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Results: 1 to 20 of 125

Similar articles for PubMed (Select 23394783)

1.

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E, Bertini E, D'Amico A.

Neuromuscul Disord. 2013 Mar;23(3):229-38. doi: 10.1016/j.nmd.2012.12.009. Epub 2013 Feb 8.

2.

MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.

Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bönnemann CG.

Neuromuscul Disord. 2007 Jan;17(1):28-32. Epub 2006 Nov 28.

PMID:
17134899
3.

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
4.

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.

5.

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
6.

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.

7.

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
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
9.

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.

10.

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
11.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P.

Ann Neurol. 2007 Dec;62(6):666-70.

PMID:
17932957
12.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Melberg A, Kretz C, Kalimo H, Wallgren-Pettersson C, Toussaint A, Böhm J, Stålberg E, Laporte J.

Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22.

PMID:
19932619
13.

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, Nonaka I, Murata M, Nishino I.

Clin Neurol Neurosurg. 2012 Jul;114(6):678-83. doi: 10.1016/j.clineuro.2011.10.040. Epub 2012 May 19.

PMID:
22613877
14.

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.

PMID:
25260562
15.

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky KF, Weis J, Fischer D.

Clin Neuropathol. 2008 Nov-Dec;27(6):430-8. Review.

16.

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.

17.

Adult centronuclear myopathies: A hospital-based study.

Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):625-31. doi: 10.1016/j.neurol.2012.12.006. Epub 2013 Aug 9.

PMID:
23938035
18.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F.

Neuromuscul Disord. 2004 Dec;14(12):785-90.

PMID:
15564033
19.

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB.

Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12. No abstract available.

PMID:
19122038
20.

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

Romero NB, Bevilacqua JA, Oldfors A, Fardeau M.

Neuromuscul Disord. 2011 Feb;21(2):148; author reply 148-9. doi: 10.1016/j.nmd.2010.11.009. No abstract available.

PMID:
21247764
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