PMC Articles for MedGen (Select 868179) - PMC

Select item 50663701.

Mitochondrial dysfunction in myofibrillar myopathy

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Oct; 26(10): 691–701. doi: 10.1016/j.nmd.2016.08.004

PMCID:: PMC5066370

Article

Select item 47393362.

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

A. Maerkens, M. Olivé, A. Schreiner, S. Feldkirchner, J. Schessl, J. Uszkoreit, K. Barkovits, A. K. Güttsches, V. Theis, M. Eisenacher, M. Tegenthoff, L. G. Goldfarb, R. Schröder, B. Schoser, P. F. M. van der Ven, D. O. Fürst, M. Vorgerd, K. Marcus, R. A. Kley

Acta Neuropathol Commun. 2016; 4: 8. Published online 2016 Feb 3. doi: 10.1186/s40478-016-0280-0

PMCID:: PMC4739336

Article PDF–8.1M

Select item 41511253.

MYOFIBRILLAR MYOPATHIES

Duygu Selcen

Curr Opin Neurol. Author manuscript; available in PMC 2014 Sep 2.

Published in final edited form as: Curr Opin Neurol. 2008 Oct; 21(5): 585–589. doi: 10.1097/WCO.0b013e32830a752b

PMCID:: PMC4151125

Article PDF–712K

Select item 34370284.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

Rudolf A. Kley, Piraye Serdaroglu-Oflazer, Yvonne Leber, Zagaa Odgerel, Peter F. M. van der Ven, Montse Olivé, Isidro Ferrer, Adekunle Onipe, Mariya Mihaylov, Juan M. Bilbao, Hee S. Lee, Jörg Höhfeld, Kristina Djinović-Carugo, Kester Kong, Martin Tegenthoff, Sören A. Peters, Werner Stenzel, Matthias Vorgerd, Lev G. Goldfarb, Dieter O. Fürst

Brain. 2012 Sep; 135(9): 2642–2660. Published online 2012 Aug 29. doi: 10.1093/brain/aws200

PMCID:: PMC3437028

Article PDF–3.3M

Select item 32358615.

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

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

Acta Myol. 2011 Oct; 30(2): 121–126.

PMCID:: PMC3235861

Article PDF–330K

Select item 26396286.

Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro MD, Caroline Sewry, Anna V. Bite, Andrew G. Engel

Ann Neurol. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 83–89. doi: 10.1002/ana.21553

PMCID:: PMC2639628

Article PDF–4.1M

Select item 19888807.

Target Genes of Neuron-Restrictive Silencer Factor Are Abnormally Up-Regulated in Human Myotilinopathy

Marta Barrachina, Jesús Moreno, Salvador Juvés, Dolores Moreno, Montse Olivé, Isidre Ferrer

Am J Pathol. 2007 Oct; 171(4): 1312–1323. doi: 10.2353/ajpath.2007.070520

PMCID:: PMC1988880

Article PDF–2.7M

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