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Items: 1 to 20 of 173

1.

Congenital myopathies.

Laing NG.

Curr Opin Neurol. 2007 Oct;20(5):583-9. Review.

PMID:
17885449
2.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

J Pathol. 2004 Nov;204(4):407-17. Review.

PMID:
15495263
3.

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ, Marston S.

Neuromuscul Disord. 2009 Jan;19(1):6-16. doi: 10.1016/j.nmd.2008.09.005. Epub 2008 Oct 30. Review.

PMID:
18976909
4.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
5.

Congenital myopathies.

D'Amico A, Bertini E.

Curr Neurol Neurosci Rep. 2008 Jan;8(1):73-9. Review.

PMID:
18367042
6.

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Ochala J.

J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Review.

PMID:
18574571
7.

Hereditary myosin myopathies.

Oldfors A.

Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review.

PMID:
17434305
8.
9.

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
10.

[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].

Robaszkiewicz K, Moraczewska J.

Postepy Hig Med Dosw (Online). 2011 Jun 14;65:347-56. Review. Polish.

11.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ.

Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
12.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PMID:
11063719
13.

Congenital myopathies with "diagnostic" pathological features.

Korényi-Both A, Korényi-Both I.

J Med. 1987;18(2):93-107. Review.

PMID:
3323392
14.

Congenital myopathies at their molecular dawning.

Goebel HH.

Muscle Nerve. 2003 May;27(5):527-48. Review.

PMID:
12707973
15.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB.

Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2.

PMID:
24095155
16.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.

Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847
17.

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P.

Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.

PMID:
19084402
18.

Skeletal muscle alpha-actin diseases.

North KN, Laing NG.

Adv Exp Med Biol. 2008;642:15-27.

PMID:
19181090
19.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):267-75. Review.

PMID:
11001821
20.

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.

Neurology. 2005 Dec 27;65(12):1936-40.

PMID:
16380616

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