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Items: 1 to 20 of 52

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.

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.

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.

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.

6.

Myotubular/centronuclear myopathy and central core disease.

Fujimura-Kiyono C, Racz GZ, Nishino I.

Neurol India. 2008 Jul-Sep;56(3):325-32. Review.

7.

Nemaline and myotubular myopathies.

Wallgren-Pettersson C.

Semin Pediatr Neurol. 2002 Jun;9(2):132-44. Review.

PMID:
12138997
8.

Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.

Goebel HH, Halbig LE, Goldfarb L, Schober R, Albani M, Neuen-Jacob E, Voit T.

Neuropediatrics. 2001 Aug;32(4):196-205. Review.

PMID:
11571700
9.

[Autosomal dominant centronuclear myopathy].

Ferrer X, Vital C, Coquet M, Deleplanque B, Ellie E, Lagueny A, Julien J.

Rev Neurol (Paris). 1992;148(10):622-30. Review. French.

PMID:
1295057
10.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.

J Med Genet. 1995 Sep;32(9):673-9. Review.

11.

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.

12.

Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature.

Talwalkar SS, Parker JR, Heffner RR, Parker JC.

Clin Neuropathol. 2006 Jul-Aug;25(4):180-4. Review.

PMID:
16866299
13.

Congenital fiber type disproportion--30 years on.

Clarke NF, North KN.

J Neuropathol Exp Neurol. 2003 Oct;62(10):977-89. Review.

PMID:
14575234
14.

Infantile autosomal dominant distal myopathy.

Scoppetta C, Casali C, La Cesa I, Sermoni A, Mercuri B, Pierelli F, Vaccario ML.

Acta Neurol Scand. 1995 Aug;92(2):122-6. Review.

PMID:
7484058
15.

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
16.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

Rev Neurol. 2003 Oct 16-31;37(8):779-86. Review. Spanish.

17.

A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis siné myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies.

Gerami P, Schope JM, McDonald L, Walling HW, Sontheimer RD.

J Am Acad Dermatol. 2006 Apr;54(4):597-613. Epub 2006 Jan 23. Review.

PMID:
16546580
18.

Congenital myopathies/dystrophies.

Riggs JE, Bodensteiner JB, Schochet SS Jr.

Neurol Clin. 2003 Nov;21(4):779-94; v-vi. Review.

PMID:
14743649
19.

Tibial muscular dystrophy with late adult onset in a Spanish family.

Pardal-Fernández JM, Jerez-García P, Rallo-Gutiérrez B, Puentes-Gil JM, Godes-Medrano B, Marco-Giner J.

Electromyogr Clin Neurophysiol. 2005 Jul-Aug;45(5):285-90. Review.

PMID:
16218196
20.

[Nemaline congenital myopathy:clinical features and histopathological findings in nine patients].

Botelho CH, Carod-Artal FJ, Kalil RK.

Rev Neurol. 2001 Feb 16-28;32(4):309-14. Review. Spanish.

PMID:
11333383

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