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Select item 99959451.

FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function

Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson

Bone Rep. 2023 Jun; 18: 101668. Published online 2023 Feb 28. doi: 10.1016/j.bonr.2023.101668

PMCID:: PMC9995945

Abstract Article PDF–3.5M

Select item 98264402.

A gain‐of‐function filamin A mutation in mouse platelets induces thrombus instability

Frédéric Adam, Alexandre Kauskot, Lamia Lamrani, Jean Solarz, Christelle Soukaseum, Christelle Repérant, Cécile V. Denis, Hana Raslova, Jean‐Philippe Rosa, Marijke Bryckaert

J Thromb Haemost. 2022 Nov; 20(11): 2666–2678. Published online 2022 Sep 23. doi: 10.1111/jth.15864

PMCID:: PMC9826440

Abstract Article PDF–3.9M

Select item 94765943.

Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

A. Muravyev, T. Vershinina, P. Tesner, G. Sjoberg, Yu. Fomicheva, N. Novák Čajbiková, A. Kozyreva, S. Zhuk, E. Mamaeva, S. Tarnovskaya, J. Jornholt, P. Sokolnikova, T. Pervunina, E. Vasichkina, T. Sejersen, A. Kostareva

Orphanet J Rare Dis. 2022; 17: 358. Published online 2022 Sep 14. doi: 10.1186/s13023-022-02477-5

PMCID:: PMC9476594

Abstract Article PDF–1.8M

Select item 86428664.

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

Abstract Article PDF–1.5M

Select item 82373995.

FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data

Rudolf Andre Kley, Yvonne Leber, Bertold Schrank, Heidi Zhuge, Zacharias Orfanos, Julius Kostan, Adekunle Onipe, Dominik Sellung, Anne Katrin Güttsches, Britta Eggers, Frank Jacobsen, Wolfram Kress, Katrin Marcus, Kristina Djinovic-Carugo, Peter F.M. van der Ven, Dieter O. Fürst, Matthias Vorgerd

Neurol Genet. 2021 Jun; 7(3): e590. Published online 2021 May 18. doi: 10.1212/NXG.0000000000000590

PMCID:: PMC8237399

Abstract Article PDF–1.0M

Select item 76748366.

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Madhuri Hegde

Front Neurol. 2020; 11: 559327. Published online 2020 Nov 5. doi: 10.3389/fneur.2020.559327

PMCID:: PMC7674836

Abstract Article PDF–1.7M

Select item 75223487.

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang

Front Neurol. 2020; 11: 1014. Published online 2020 Sep 15. doi: 10.3389/fneur.2020.01014

Correction in:: Front Neurol. 2020; 11: 636981.

PMCID:: PMC7522348

Abstract Article PDF–1.8M

Select item 35369028.

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

Abstract Article PDF–2.2M

Select item 34370289.

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

Abstract Article PDF–3.3M

Select item 340011610.

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

Abstract Article PDF–1.5M

Select item 953051611.

Sphingomyelinase activity promotes atrophy and attenuates force in human muscle fibres and is elevated in heart failure patients

Karl Olsson, Arthur J. Cheng, Mamdoh Al‐Ameri, Nicolas Tardif, Michael Melin, Olav Rooyackers, Johanna T. Lanner, Håkan Westerblad, Thomas Gustafsson, Joseph D. Bruton, Eric Rullman

J Cachexia Sarcopenia Muscle. 2022 Oct; 13(5): 2551–2561. Published online 2022 Jul 18. doi: 10.1002/jcsm.13029

PMCID:: PMC9530516

Abstract Article PDF–16M

Select item 826037712.

Improved recovery from skeletal muscle damage is largely unexplained by myofibrillar protein synthesis or inflammatory and regenerative gene expression pathways

George F. Pavis, Tom S. O. Jameson, Marlou L. Dirks, Benjamin P. Lee, Doaa R. Abdelrahman, Andrew J. Murton, Craig Porter, Nima Alamdari, Catherine R. Mikus, Benjamin T. Wall, Francis B. Stephens

Am J Physiol Endocrinol Metab. 2021 Feb 1; 320(2): E291–E305. Published online 2020 Dec 7. doi: 10.1152/ajpendo.00454.2020

PMCID:: PMC8260377

Abstract Article

Select item 819417413.

Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy

Zoë J. Williams, Deborah Velez-Irizarry, Keri Gardner, Stephanie J. Valberg

BMC Genomics. 2021; 22: 438. Published online 2021 Jun 11. doi: 10.1186/s12864-021-07758-0

PMCID:: PMC8194174

Abstract Article PDF–11M

Select item 793776614.

Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis

Stephanie J. Valberg, Carrie J. Finno, Marisa L. Henry, Melissa Schott, Deborah Velez‐Irizarry, Sichong Peng, Erica C. McKenzie, Jessica L. Petersen

Equine Vet J. 2021 Jul; 53(4): 690–700. Published online 2020 Oct 29. doi: 10.1111/evj.13345

PMCID:: PMC7937766

Abstract Article PDF–476K

Select item 735784515.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin

Norman R. Watts, Xiaolei Zhuang, Joshua D. Kaufman, Ira W. Palmer, Altaira D. Dearborn, Stephen Coscia, Yotam Blech-Hermoni, Caterina Alfano, Annalisa Pastore, Ami Mankodi, Paul T. Wingfield

Biochemistry. Author manuscript; available in PMC 2020 Jul 13.

Published in final edited form as: Biochemistry. 2017 Apr 11; 56(14): 2061–2070. Published online 2017 Apr 3. doi: 10.1021/acs.biochem.7b00067

PMCID:: PMC7357845

Abstract Article PDF–2.0M

Select item 612119216.

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Michael D Fox, Vincent J Carson, Han-Zhong Feng, Michael W Lawlor, John T Gray, Karlla W Brigatti, J -P Jin, Kevin A Strauss

Hum Mol Genet. 2018 Sep 15; 27(18): 3272–3282. Published online 2018 Jun 20. doi: 10.1093/hmg/ddy233

PMCID:: PMC6121192

Abstract Article PDF–1.3M

Select item 608361917.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

BMC Med Genet. 2018; 19: 140. Published online 2018 Aug 8. doi: 10.1186/s12881-018-0655-0

PMCID:: PMC6083619

Abstract Article PDF–5.9M

Select item 564049918.

Clinical and histopathological features of myofibrillar myopathy in Warmblood horses

S. J. VALBERG, A. M. NICHOLSON, S. S. LEWIS, R. A. REARDON, C. J. FINNO

Equine Vet J. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Equine Vet J. 2017 Nov; 49(6): 739–745. Published online 2017 Jun 26. doi: 10.1111/evj.12702

PMCID:: PMC5640499

Abstract Article PDF–639K

Select item 512719719.

Dieter O. Fürst, Lev G. Goldfarb, Rudolf A. Kley, Matthias Vorgerd, Montse Olivé, Peter F. M. van der Ven

Acta Neuropathol. Author manuscript; available in PMC 2016 Nov 29.

Published in final edited form as: Acta Neuropathol. 2013 Jan; 125(1): 33–46. Published online 2012 Oct 30. doi: 10.1007/s00401-012-1054-9

PMCID:: PMC5127197

Abstract Article PDF–1.5M

Select item 512088020.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

A. Maerkens, R.A. Kley, M. Olivé, V. Theis, P.F.M. van der Ven, J. Reimann, H. Milting, A. Schreiner, J. Uszkoreit, M. Eisenacher, K. Barkovits, A.K. Güttsches, J. Tonillo, K. Kuhlmann, H.E. Meyer, R. Schröder, M. Tegenthoff, D.O. Fürst, T. Müller, L.G. Goldfarb, M. Vorgerd, K. Marcus

J Proteomics. Author manuscript; available in PMC 2016 Nov 23.

Published in final edited form as: J Proteomics. 2013 Sep 2; 90: 14–27. Published online 2013 Apr 30. doi: 10.1016/j.jprot.2013.04.026

PMCID:: PMC5120880

Abstract Article PDF–3.0M

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