PMC Articles for MedGen (Select 372186) - PMC

Select item 86428661.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Bordeaux-cohort collaborators

Orphanet J Rare Dis. 2021; 16: 504. Published online 2021 Dec 4. doi: 10.1186/s13023-021-02128-1

PMCID:: PMC8642866

Article PDF–1.5M

Select item 56030162.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd, Wolfgang A. Linke

Acta Neuropathol Commun. 2017; 5: 72. Published online 2017 Sep 15. doi: 10.1186/s40478-017-0474-0

PMCID:: PMC5603016

Article PDF–3.9M

Select item 34001163.

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Giorgio Tasca, Zagaa Odgerel, Mauro Monforte, Stefania Aurino, Nigel F. Clarke, Leigh B. Waddell, Bjarne Udd, Enzo Ricci, Lev G. Goldfarb

Muscle Nerve. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: Muscle Nerve. 2012 Aug; 46(2): 275–282. doi: 10.1002/mus.23349

PMCID:: PMC3400116

Article PDF–1.5M

Select item 35369024.

A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients

Rudolf A. Kley, Alexandra Maerkens, Yvonne Leber, Verena Theis, Anja Schreiner, Peter F. M. van der Ven, Julian Uszkoreit, Christian Stephan, Stefan Eulitz, Nicole Euler, Janbernd Kirschner, Klaus Müller, Helmut E. Meyer, Martin Tegenthoff, Dieter O. Fürst, Matthias Vorgerd, Thorsten Müller, Katrin Marcus

Mol Cell Proteomics. 2013 Jan; 12(1): 215–227. Published online 2012 Oct 31. doi: 10.1074/mcp.M112.023176

PMCID:: PMC3536902

Article PDF–2.2M

Select item 34370285.

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 34211246.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors

Eur J Hum Genet. 2012 Sep; 20(9): 984–985. Published online 2012 Mar 7. doi: 10.1038/ejhg.2012.39

PMCID:: PMC3421124

Article PDF–124K

Select item 32358617.

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

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