160 related articles for article (PubMed ID: 23238331)
21. Molecular pathology of myofibrillar myopathies.
Ferrer I; Olivé M
Expert Rev Mol Med; 2008 Sep; 10():e25. PubMed ID: 18764962
[TBL] [Abstract][Full Text] [Related]
22. A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.
Park YE; Kim DS; Shin JH
Clin Neurol Neurosurg; 2022 Oct; 221():107386. PubMed ID: 35961230
[TBL] [Abstract][Full Text] [Related]
23. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A; Kley RA; Olivé M; Theis V; van der Ven PF; Reimann J; Milting H; Schreiner A; Uszkoreit J; Eisenacher M; Barkovits K; Güttsches AK; Tonillo J; Kuhlmann K; Meyer HE; Schröder R; Tegenthoff M; Fürst DO; Müller T; Goldfarb LG; Vorgerd M; Marcus K
J Proteomics; 2013 Sep; 90():14-27. PubMed ID: 23639843
[TBL] [Abstract][Full Text] [Related]
24. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Schuld J; Orfanos Z; Chevessier F; Eggers B; Heil L; Uszkoreit J; Unger A; Kirfel G; van der Ven PFM; Marcus K; Linke WA; Clemen CS; Schröder R; Fürst DO
Acta Neuropathol Commun; 2020 Sep; 8(1):154. PubMed ID: 32887649
[TBL] [Abstract][Full Text] [Related]
25. The E3 ubiquitin ligase specificity subunit ASB2α targets filamins for proteasomal degradation by interacting with the filamin actin-binding domain.
Razinia Z; Baldassarre M; Bouaouina M; Lamsoul I; Lutz PG; Calderwood DA
J Cell Sci; 2011 Aug; 124(Pt 15):2631-41. PubMed ID: 21750192
[TBL] [Abstract][Full Text] [Related]
26. FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA; Leber Y; Schrank B; Zhuge H; Orfanos Z; Kostan J; Onipe A; Sellung D; Güttsches AK; Eggers B; Jacobsen F; Kress W; Marcus K; Djinovic-Carugo K; van der Ven PFM; Fürst DO; Vorgerd M
Neurol Genet; 2021 Jun; 7(3):e590. PubMed ID: 34235269
[TBL] [Abstract][Full Text] [Related]
27. Expanding the phenotype of filamin-C-related myofibrillar myopathy.
Borch JS; Eisum AV; Krag T; Vissing J
Clin Neurol Neurosurg; 2019 Jan; 176():30-33. PubMed ID: 30496909
[TBL] [Abstract][Full Text] [Related]
28. Myofibrillar myopathies.
Selcen D
Neuromuscul Disord; 2011 Mar; 21(3):161-71. PubMed ID: 21256014
[TBL] [Abstract][Full Text] [Related]
29. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
Forrest KM; Al-Sarraj S; Sewry C; Buk S; Tan SV; Pitt M; Durward A; McDougall M; Irving M; Hanna MG; Matthews E; Sarkozy A; Hudson J; Barresi R; Bushby K; Jungbluth H; Wraige E
Neuromuscul Disord; 2011 Jan; 21(1):37-40. PubMed ID: 21130652
[TBL] [Abstract][Full Text] [Related]
30. Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis.
Ferrer I; Carmona M; Blanco R; Moreno D; Torrejón-Escribano B; Olivé M
Brain Pathol; 2005 Apr; 15(2):101-8. PubMed ID: 15912881
[TBL] [Abstract][Full Text] [Related]
31. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Guergueltcheva V; Peeters K; Baets J; Ceuterick-de Groote C; Martin JJ; Suls A; De Vriendt E; Mihaylova V; Chamova T; Almeida-Souza L; Ydens E; Tzekov C; Hadjidekov G; Gospodinova M; Storm K; Reyniers E; Bichev S; van der Ven PF; Fürst DO; Mitev V; Lochmüller H; Timmerman V; Tournev I; De Jonghe P; Jordanova A
Neurology; 2011 Dec; 77(24):2105-14. PubMed ID: 22131542
[TBL] [Abstract][Full Text] [Related]
32. Metformin rescues muscle function in BAG3 myofibrillar myopathy models.
Ruparelia AA; McKaige EA; Williams C; Schulze KE; Fuchs M; Oorschot V; Lacene E; Meregalli M; Lee C; Serrano RJ; Baxter EC; Monro K; Torrente Y; Ramm G; Stojkovic T; Lavoie JN; Bryson-Richardson RJ
Autophagy; 2021 Sep; 17(9):2494-2510. PubMed ID: 33030392
[TBL] [Abstract][Full Text] [Related]
33. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Claeys KG; van der Ven PF; Behin A; Stojkovic T; Eymard B; Dubourg O; Laforêt P; Faulkner G; Richard P; Vicart P; Romero NB; Stoltenburg G; Udd B; Fardeau M; Voit T; Fürst DO
Acta Neuropathol; 2009 Mar; 117(3):293-307. PubMed ID: 19151983
[TBL] [Abstract][Full Text] [Related]
34. Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation.
Janué A; Olivé M; Ferrer I
Brain Pathol; 2007 Oct; 17(4):377-88. PubMed ID: 17784878
[TBL] [Abstract][Full Text] [Related]
35. Dominant-negative effects of a novel mutation in the filamin myopathy.
van der Ven PF; Odgerel Z; Fürst DO; Goldfarb LG; Kono S; Miyajima H
Neurology; 2010 Dec; 75(23):2137-8. PubMed ID: 21135393
[No Abstract] [Full Text] [Related]
36. HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles.
Juo LY; Liao WC; Shih YL; Yang BY; Liu AB; Yan YT
J Cell Sci; 2016 Apr; 129(8):1661-70. PubMed ID: 26929074
[TBL] [Abstract][Full Text] [Related]
37. Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
Fujita M; Mitsuhashi H; Isogai S; Nakata T; Kawakami A; Nonaka I; Noguchi S; Hayashi YK; Nishino I; Kudo A
Dev Biol; 2012 Jan; 361(1):79-89. PubMed ID: 22020047
[TBL] [Abstract][Full Text] [Related]
38. Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis.
Ferrer I; Martín B; Castaño JG; Lucas JJ; Moreno D; Olivé M
J Neuropathol Exp Neurol; 2004 May; 63(5):484-98. PubMed ID: 15198127
[TBL] [Abstract][Full Text] [Related]
39. Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Lee HH; Wong S; Sheng B; Pan NK; Leung YF; Lau KD; Cheng YS; Ho LC; Li R; Lee CN; Tsoi TH; Cheung YN; Fu YM; Kan NA; Chu YP; Au WL; Yeung HJ; Li SH; Cheung CM; Tong HF; Hung LE; Chan TY; Li CT; Tong TT; Tong TC; Leung HC; Lee KH; Yeung SS; Lee SB; Lau TG; Lam CW; Mak CM; Chan AY
Clin Genet; 2020 May; 97(5):747-757. PubMed ID: 32022900
[TBL] [Abstract][Full Text] [Related]
40. Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.
van den Bogaart FJ; Claeys KG; Kley RA; Kusters B; Schrading S; Kamsteeg EJ; Voermans NC
Neuromuscul Disord; 2017 Jan; 27(1):73-77. PubMed ID: 27816332
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
