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Items: 1 to 20 of 285

1.

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
2.

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
3.

Myotilinopathy in a family with late onset myopathy.

Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B.

Neuromuscul Disord. 2006 Jul;16(7):427-31. Epub 2006 Jun 21.

PMID:
16793270
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
5.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
6.

Actin-organising properties of the muscular dystrophy protein myotilin.

von Nandelstadh P, Grönholm M, Moza M, Lamberg A, Savilahti H, Carpén O.

Exp Cell Res. 2005 Oct 15;310(1):131-9.

PMID:
16122733
7.

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
8.

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.

9.

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
10.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

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

PMID:
11001821
11.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
12.

Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.

von Nandelstadh P, Soliymani R, Baumann M, Carpen O.

Biochem J. 2011 May 15;436(1):113-21. doi: 10.1042/BJ20101672.

PMID:
21361873
13.

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
14.

Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation.

Janué A, Olivé M, Ferrer I.

Brain Pathol. 2007 Oct;17(4):377-88. Epub 2007 Sep 4.

PMID:
17784878
15.

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.

Hum Mol Genet. 2000 Sep 1;9(14):2141-7.

PMID:
10958653
16.

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.

Hum Mutat. 2009 Mar;30(3):E490-9. doi: 10.1002/humu.20941.

PMID:
19105189
17.

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
18.

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.

Schröder R, Reimann J, Salmikangas P, Clemen CS, Hayashi YK, Nonaka I, Arahata K, Carpén O.

Neuromuscul Disord. 2003 Aug;13(6):451-5.

PMID:
12899871
19.

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.

Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schröder R, Lappalainen P, Fürst DO, Carpén O.

Hum Mol Genet. 2003 Jan 15;12(2):189-203.

PMID:
12499399
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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