PubMed for id: 372186

Year	Number of Results
2006	1
2007	1
2011	2
2012	6
2013	2
2015	1
2017	2
2020	2
2021	1
2024	0

1

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

Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Billon C, et al. Orphanet J Rare Dis. 2021 Dec 4;16(1):504. doi: 10.1186/s13023-021-02128-1. Orphanet J Rare Dis. 2021. PMID: 34863227 Free PMC article.

2

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.

Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U. Kölbel H, et al. Hum Mutat. 2020 Sep;41(9):1600-1614. doi: 10.1002/humu.24062. Epub 2020 Jul 11. Hum Mutat. 2020. PMID: 32516863

3

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. Lee HH, et al. Clin Genet. 2020 May;97(5):747-757. doi: 10.1111/cge.13715. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32022900

4

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

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA. Unger A, et al. Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0. Acta Neuropathol Commun. 2017. PMID: 28915917 Free PMC article.

5

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α_IIbβ₃ Activation.

Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M. Berrou E, et al. Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1087-1097. doi: 10.1161/ATVBAHA.117.309337. Epub 2017 Apr 20. Arterioscler Thromb Vasc Biol. 2017. PMID: 28428218

6

Heterogeneity of platelet functional alterations in patients with filamin A mutations.

Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M. Berrou E, et al. Arterioscler Thromb Vasc Biol. 2013 Jan;33(1):e11-8. doi: 10.1161/ATVBAHA.112.300603. Epub 2012 Nov 1. Arterioscler Thromb Vasc Biol. 2013. PMID: 23117662

7

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

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG. Tasca G, et al. Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349. Muscle Nerve. 2012. PMID: 22806379 Free PMC article.

8

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. Guergueltcheva V, et al. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542

9

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.

Löwe T, Kley RA, van der Ven PF, Himmel M, Huebner A, Vorgerd M, Fürst DO. Löwe T, et al. Hum Mol Genet. 2007 Jun 1;16(11):1351-8. doi: 10.1093/hmg/ddm085. Epub 2007 Apr 5. Hum Mol Genet. 2007. PMID: 17412757

10

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L. Colombani M, et al. Prenat Diagn. 2006 Dec;26(12):1151-5. doi: 10.1002/pd.1576. Prenat Diagn. 2006. PMID: 17009344

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