598 related articles for article (PubMed ID: 26933038)
21. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L; Bertrand AT; Jais JP; Salih MA; Stojkovic T; Wehnert M; Hoeltzenbein M; Spuler S; Saitoh S; Verschueren A; Tranchant C; Beuvin M; Lacene E; Romero NB; Heath S; Zelenika D; Voit T; Eymard B; Ben Yaou R; Bonne G
Am J Hum Genet; 2009 Sep; 85(3):338-53. PubMed ID: 19716112
[TBL] [Abstract][Full Text] [Related]
22. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
D'Avila F; Meregalli M; Lupoli S; Barcella M; Orro A; De Santis F; Sitzia C; Farini A; D'Ursi P; Erratico S; Cristofani R; Milanesi L; Braga D; Cusi D; Poletti A; Barlassina C; Torrente Y
J Muscle Res Cell Motil; 2016 Jun; 37(3):101-15. PubMed ID: 27443559
[TBL] [Abstract][Full Text] [Related]
23. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
Schessl J; Columbus A; Hu Y; Zou Y; Voit T; Goebel HH; Bönnemann CG
Neuropediatrics; 2010 Feb; 41(1):43-6. PubMed ID: 20571991
[TBL] [Abstract][Full Text] [Related]
24. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T; Lu X; Shi Q; Guo J; Wang H; Wang Q; Yin X; Zhang Y; Pu C; Zhou D
Neuromuscul Disord; 2020 Feb; 30(2):165-172. PubMed ID: 32001145
[TBL] [Abstract][Full Text] [Related]
25. Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Domenighetti AA; Chu PH; Wu T; Sheikh F; Gokhin DS; Guo LT; Cui Z; Peter AK; Christodoulou DC; Parfenov MG; Gorham JM; Li DY; Banerjee I; Lai X; Witzmann FA; Seidman CE; Seidman JG; Gomes AV; Shelton GD; Lieber RL; Chen J
Hum Mol Genet; 2014 Jan; 23(1):209-25. PubMed ID: 23975679
[TBL] [Abstract][Full Text] [Related]
26. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
Wilding BR; McGrath MJ; Bonne G; Mitchell CA
J Cell Sci; 2014 May; 127(Pt 10):2269-81. PubMed ID: 24634512
[TBL] [Abstract][Full Text] [Related]
27. Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V; Kubota A; Garcia-Diaz B; Garone C; Akman HO; Sánchez-Gutiérrez D; Escudero LM; Kariya S; Homma S; Tanji K; Quinzii CM; Hirano M
Hum Mol Genet; 2015 Feb; 24(3):714-26. PubMed ID: 25274776
[TBL] [Abstract][Full Text] [Related]
28. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
Willis TA; Wood CL; Hudson J; Polvikoski T; Barresi R; Lochmüller H; Bushby K; Straub V
Clin Genet; 2016 Aug; 90(2):166-70. PubMed ID: 27409453
[TBL] [Abstract][Full Text] [Related]
29. FHL1-mutated reducing body myopathy.
Lim KY; Kim HH; Sung JJ; Oh BM; Kim K; Park SH
Neuropathology; 2020 Apr; 40(2):185-190. PubMed ID: 31803991
[TBL] [Abstract][Full Text] [Related]
30. Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1).
Ng EK; Lee SM; Li HY; Ngai SM; Tsui SK; Waye MM; Lee CY; Fung KP
J Cell Biochem; 2001 Apr 2-27; 82(1):1-10. PubMed ID: 11400158
[TBL] [Abstract][Full Text] [Related]
31. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
Friedrich FW; Wilding BR; Reischmann S; Crocini C; Lang P; Charron P; Müller OJ; McGrath MJ; Vollert I; Hansen A; Linke WA; Hengstenberg C; Bonne G; Morner S; Wichter T; Madeira H; Arbustini E; Eschenhagen T; Mitchell CA; Isnard R; Carrier L
Hum Mol Genet; 2012 Jul; 21(14):3237-54. PubMed ID: 22523091
[TBL] [Abstract][Full Text] [Related]
32. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
D'Arcy C; Kanellakis V; Forbes R; Wilding B; McGrath M; Howell K; Ryan M; McLean C
J Child Neurol; 2015 Aug; 30(9):1211-7. PubMed ID: 25246303
[TBL] [Abstract][Full Text] [Related]
33. Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients.
Lin Y; Ban R; Qiao L; Chen J; Liu M; Liu J; Shi Q
J Hum Genet; 2023 Jul; 68(7):477-484. PubMed ID: 36864287
[TBL] [Abstract][Full Text] [Related]
34. A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
Pillar N; Pleniceanu O; Fang M; Ziv L; Lahav E; Botchan S; Cheng L; Dekel B; Shomron N
Hum Genet; 2017 Jul; 136(7):835-845. PubMed ID: 28444561
[TBL] [Abstract][Full Text] [Related]
35. Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
Mota IA; Correia CDC; Fontana PN; Carvalho AAS
Neuromuscul Disord; 2021 Sep; 31(9):847-853. PubMed ID: 34366191
[TBL] [Abstract][Full Text] [Related]
36. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
Park YE; Kim DS; Shin JH
Clin Neurol Neurosurg; 2019 May; 180():48-51. PubMed ID: 30928807
[TBL] [Abstract][Full Text] [Related]
37. Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Tiffin HR; Jenkins ZA; Gray MJ; Cameron-Christie SR; Eaton J; Aftimos S; Markie D; Robertson SP
Neurogenetics; 2013 May; 14(2):113-21. PubMed ID: 23456229
[TBL] [Abstract][Full Text] [Related]
38. FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).
Feeney SJ; McGrath MJ; Sriratana A; Gehrig SM; Lynch GS; D'Arcy CE; Price JT; McLean CA; Tupler R; Mitchell CA
PLoS One; 2015; 10(2):e0117665. PubMed ID: 25695429
[TBL] [Abstract][Full Text] [Related]
39. Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.
Cowling BS; McGrath MJ; Nguyen MA; Cottle DL; Kee AJ; Brown S; Schessl J; Zou Y; Joya J; Bönnemann CG; Hardeman EC; Mitchell CA
J Cell Biol; 2008 Dec; 183(6):1033-48. PubMed ID: 19075112
[TBL] [Abstract][Full Text] [Related]
40. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Binder JS; Weidemann F; Schoser B; Niemann M; Machann W; Beer M; Plank G; Schmidt A; Bisping E; Poparic I; Lafer I; Stojakovic T; Quasthoff S; Vincent JB; Rienmueller R; Speicher MR; Berghold A; Pieske B; Windpassinger C
Circ Cardiovasc Genet; 2012 Oct; 5(5):490-502. PubMed ID: 22923418
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
