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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2004 2
2007 1
2008 3
2010 1
2011 2
2013 2
2014 4
2015 6
2016 6
2017 1
2018 3
2019 2
2020 5
2021 2
2022 3
2024 1

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38 results

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Page 1
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolat …
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar …
Myofibrillar myopathies.
Selcen D. Selcen D. Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Neuromuscul Disord. 2011. PMID: 21256014 Free PMC article. Review.
The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar myopathy mutations have been traced to Z-disk-associated proteins, namely, desmin, alphaB-crystallin, myotilin, ZASP, filamin C and Bag3 …
The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar …
Distal myopathies.
Dimachkie MM, Barohn RJ. Dimachkie MM, et al. Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15. Neurol Clin. 2014. PMID: 25037092 Free PMC article. Review.
Distal Myopathies.
Felice KJ. Felice KJ. Neurol Clin. 2020 Aug;38(3):637-659. doi: 10.1016/j.ncl.2020.03.007. Epub 2020 Jun 11. Neurol Clin. 2020. PMID: 32703474 Review.
Myofibrillar myopathies.
Selcen D. Selcen D. Curr Opin Neurol. 2008 Oct;21(5):585-9. doi: 10.1097/WCO.0b013e32830a752b. Curr Opin Neurol. 2008. PMID: 18769253 Free PMC article. Review.
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic alterat …
RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternativ …
Myofibrillar myopathy.
Engel AG. Engel AG. Ann Neurol. 1999 Nov;46(5):681-3. doi: 10.1002/1531-8249(199911)46:5<681::aid-ana1>3.0.co;2-b. Ann Neurol. 1999. PMID: 10553983 Review. No abstract available.
Myofibrillar myopathies.
Claeys KG, Fardeau M. Claeys KG, et al. Handb Clin Neurol. 2013;113:1337-42. doi: 10.1016/B978-0-444-59565-2.00005-8. Handb Clin Neurol. 2013. PMID: 23622358 Review.
BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.
Xu Y, Liu SX, Xu WB, Luo JM, Niu JW, Liu Z, Gao JM, Wang JL, Dai Y, Wang MZ. Xu Y, et al. Chin Med Sci J. 2021 Dec 31;36(4):265-278. doi: 10.24920/003883. Chin Med Sci J. 2021. PMID: 34986963 Review.
The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo p.Pro209Leu mutation in BAG3. Totally twenty-one patients from twenty families with a confirmed diagnosis of BAG3-related myopathy were rep …
The muscle biopsy and the blood whole-exome sequencing results confirmed the diagnosis of myofibrillar myopathy with a de novo …
Myofibrillar and distal myopathies.
Palmio J, Udd B. Palmio J, et al. Rev Neurol (Paris). 2016 Oct;172(10):587-593. doi: 10.1016/j.neurol.2016.07.019. Epub 2016 Sep 13. Rev Neurol (Paris). 2016. PMID: 27638134 Review.
Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration. All genes causing myofibrillar myopathy encode proteins that either reside in or ass …
Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggr …
38 results