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Results: 1 to 20 of 322

1.

Mutations in myotilin cause myofibrillar myopathy.

Selcen D, Engel AG.

Neurology. 2004 Apr 27;62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405.

PMID:
15111675
[PubMed - indexed for MEDLINE]
2.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Selcen D, Ohno K, Engel AG.

Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7.

PMID:
14711882
[PubMed - indexed for MEDLINE]
Free Article
3.

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.

Brain. 2005 Oct;128(Pt 10):2315-26. Epub 2005 Jun 9.

PMID:
15947064
[PubMed - indexed for MEDLINE]
Free Article
4.

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.

Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.

J Neuropathol Exp Neurol. 2009 Jun;68(6):701-7. doi: 10.1097/NEN.0b013e3181a7f703.

PMID:
19458539
[PubMed - indexed for MEDLINE]
5.

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG.

Ann Neurol. 2005 Feb;57(2):269-76.

PMID:
15668942
[PubMed - indexed for MEDLINE]
6.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
[PubMed - indexed for MEDLINE]
Free Article
7.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

The Z-disk diseases.

Selcen D, Carpén O.

Adv Exp Med Biol. 2008;642:116-30. Review.

PMID:
19181098
[PubMed - indexed for MEDLINE]
10.

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?

Gamez J, Armstrong J, Shatunov A, Selva-O'Callaghan A, Dominguez-Oronoz R, Ortega A, Goldfarb L, Ferrer I, Olivé M.

J Neurol Sci. 2009 Feb 15;277(1-2):167-71. doi: 10.1016/j.jns.2008.10.019. Epub 2008 Nov 22.

PMID:
19027924
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.

Liewluck T, Kintarak J, Sangruchi T, Selcen D, Kulkantrakorn K.

J Med Assoc Thai. 2009 Feb;92(2):290-5.

PMID:
19253808
[PubMed - indexed for MEDLINE]
12.

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.

Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA.

Hum Mol Genet. 2006 Aug 1;15(15):2348-62. Epub 2006 Jun 26.

PMID:
16801328
[PubMed - indexed for MEDLINE]
Free Article
13.

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20.

PMID:
21336781
[PubMed - indexed for MEDLINE]
14.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.

N Engl J Med. 2000 Mar 16;342(11):770-80.

PMID:
10717012
[PubMed - indexed for MEDLINE]
Free Article
15.

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.

Vattemi G, Neri M, Piffer S, Vicart P, Gualandi F, Marini M, Guglielmi V, Filosto M, Tonin P, Ferlini A, Tomelleri G.

Acta Myol. 2011 Oct;30(2):121-6.

PMID:
22106715
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

In vivo characterization of mutant myotilins.

Keduka E, Hayashi YK, Shalaby S, Mitsuhashi H, Noguchi S, Nonaka I, Nishino I.

Am J Pathol. 2012 Apr;180(4):1570-80. doi: 10.1016/j.ajpath.2011.12.040. Epub 2012 Feb 18.

PMID:
22349301
[PubMed - indexed for MEDLINE]
Free Article
17.

Myofibrillar myopathies.

Selcen D, Engel AG.

Handb Clin Neurol. 2011;101:143-54. doi: 10.1016/B978-0-08-045031-5.00011-6. Review.

PMID:
21496631
[PubMed - indexed for MEDLINE]
18.

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R.

Neuromuscul Disord. 2006 Jun;16(6):361-7. Epub 2006 May 8.

PMID:
16684602
[PubMed - indexed for MEDLINE]
19.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Claeys KG, van der Ven PF, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforêt P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Fürst DO.

Acta Neuropathol. 2009 Mar;117(3):293-307. doi: 10.1007/s00401-008-0479-7. Epub 2009 Jan 17.

PMID:
19151983
[PubMed - indexed for MEDLINE]
20.

[Myofibrillar myopathy].

Hayashi YK.

Brain Nerve. 2011 Nov;63(11):1179-88. Review. Japanese.

PMID:
22068470
[PubMed - indexed for MEDLINE]
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