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Items: 1 to 20 of 297

1.

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
2.

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
3.

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
4.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
5.

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.

6.

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
7.

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

Sobrido MJ, Fernández JM, Fontoira E, Pérez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martínez M, Navarro C.

Brain. 2005 Jul;128(Pt 7):1716-27. Epub 2005 Apr 27.

PMID:
15857933
8.

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
9.

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
10.

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
11.

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
12.

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
13.

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.

Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, Panthier JJ.

Hum Genet. 2003 Sep;113(4):297-306. Epub 2003 Jul 23.

PMID:
12884002
14.

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
15.

[Clinical and biopsy-based myopathological features of 5 cases with centronuclear myopathy].

Li HH, Liu SP, Li W, Zhao YY, Wu JL, Li DN, Yan CZ.

Zhonghua Er Ke Za Zhi. 2008 Nov;46(11):856-9. Chinese.

PMID:
19099905
16.

Congenital and metabolic myopathies of childhood or adult onset.

Miró O, Laguno M, Masanés F, Perea M, Urbano-Márquez A, Grau JM.

Semin Arthritis Rheum. 2000 Jun;29(6):335-47.

PMID:
10924019
17.

Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset.

Zanoteli E, Oliveira AS, Kiyomoto BH, Schmidt B, Gabbai AA.

Arq Neuropsiquiatr. 1998 Mar;56(1):1-8.

PMID:
9686113
18.

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z.

Brain. 2005 Jan;128(Pt 1):42-51. Epub 2004 Nov 17.

PMID:
15548556
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.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PMID:
16380615

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