PubMed for id: 811509

Year	Number of Results
1975	4
1976	4
1977	1
1978	3
1979	4
1980	2
1981	2
1982	2
1983	2
1984	4
1985	3
1986	4
1987	4
1988	3
1989	3
1990	1
1991	1
1993	6
1994	8
1995	2
1996	4
1997	4
1998	7
1999	4
2000	7
2001	4
2002	8
2003	6
2004	12
2005	14
2006	12
2007	17
2008	12
2009	12
2010	6
2011	14
2012	10
2013	18
2014	26
2015	11
2016	13
2017	12
2018	14
2019	14
2020	18
2021	20
2022	18
2023	11
2024	3

1

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PF, Fürst DO, Vorgerd M, Marcus K, Kley RA. Maerkens A, et al. Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0. Acta Neuropathol Commun. 2016. PMID: 26842778 Free PMC article.

2

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

von Nandelstadh P, Soliymani R, Baumann M, Carpen O. von Nandelstadh P, et al. Biochem J. 2011 May 15;436(1):113-21. doi: 10.1042/BJ20101672. Biochem J. 2011. PMID: 21361873

3

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. Gamez J, et al. J Neurol Sci. 2009 Feb 15;277(1-2):167-71. doi: 10.1016/j.jns.2008.10.019. Epub 2008 Nov 22. J Neurol Sci. 2009. PMID: 19027924 Free PMC article.

4

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol.

Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF. Schramm N, et al. Eur Radiol. 2008 Dec;18(12):2922-36. doi: 10.1007/s00330-008-1071-1. Epub 2008 Jul 22. Eur Radiol. 2008. PMID: 18648820

5

Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy.

Barrachina M, Moreno J, Juvés S, Moreno D, Olivé M, Ferrer I. Barrachina M, et al. Am J Pathol. 2007 Oct;171(4):1312-23. doi: 10.2353/ajpath.2007.070520. Epub 2007 Sep 6. Am J Pathol. 2007. PMID: 17823282 Free PMC article.

6

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. Pénisson-Besnier I, et al. Neuromuscul Disord. 2006 Jul;16(7):427-31. doi: 10.1016/j.nmd.2006.04.009. Epub 2006 Jun 21. Neuromuscul Disord. 2006. PMID: 16793270

7

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. Fischer D, et al. Neuromuscul Disord. 2006 Jun;16(6):361-7. doi: 10.1016/j.nmd.2006.03.007. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684602

8

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I. Olivé M, et al. Brain. 2005 Oct;128(Pt 10):2315-26. doi: 10.1093/brain/awh576. Epub 2005 Jun 9. Brain. 2005. PMID: 15947064 Free article.

9

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.

10

Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.

Haug M, Reischl B, Nübler S, Kiriaev L, Mázala DAG, Houweling PJ, North KN, Friedrich O, Head SI. Haug M, et al. Skelet Muscle. 2022 Jun 23;12(1):14. doi: 10.1186/s13395-022-00295-8. Skelet Muscle. 2022. PMID: 35733150 Free PMC article.

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