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Items: 17

1.

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.

2.

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.

3.

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
4.

Centronuclear myopathies: a widening concept.

Romero NB.

Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23. Review.

PMID:
20181480
5.

Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature.

Verma S, Balasubramanian SB.

J Clin Neuromuscul Dis. 2016 Dec;18(2):84-88. Review.

PMID:
27861221
6.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

7.

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.

8.

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J.

Orphanet J Rare Dis. 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. Review.

9.

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
10.

Clinical and histologic findings in autosomal centronuclear myopathy.

Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB.

Neurology. 2004 May 11;62(9):1484-90. Review.

PMID:
15136669
11.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
12.

Pathogenic mechanisms in centronuclear myopathies.

Jungbluth H, Gautel M.

Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014 Dec 19. Review.

13.

Muscle imaging in congenital myopathies.

Quijano-Roy S, Carlier RY, Fischer D.

Semin Pediatr Neurol. 2011 Dec;18(4):221-9. doi: 10.1016/j.spen.2011.10.003. Review.

PMID:
22172417
14.

Dynamin 2 in Charcot-Marie-Tooth disease.

Tanabe K, Takei K.

Acta Med Okayama. 2012;66(3):183-90. Review.

15.

X-linked myotubular and centronuclear myopathies.

Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH.

J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. Review.

PMID:
16042307
16.

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.

17.

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS, Toussaint A, Muller J, Laporte J.

PLoS Genet. 2012;8(4):e1002595. doi: 10.1371/journal.pgen.1002595. Epub 2012 Apr 5. Review.

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