PMC Articles for MedGen (Select 346746) - PMC

Select item 12880951.

Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

Martin Brockington, Caroline A. Sewry, Ralf Herrmann, Isam Naom, Andrew Dearlove, Michael Rhodes, Haluk Topaloglu, Victor Dubowitz, Thomas Voit, Francesco Muntoni

Am J Hum Genet. 2000 Feb; 66(2): 428–435. Published online 2000 Jan 27. doi: 10.1086/302775

PMCID:: PMC1288095

Abstract Article PDF–613K

Select item 12355592.

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Am J Hum Genet. 2001 Dec; 69(6): 1198–1209. Published online 2001 Oct 8. doi: 10.1086/324412

PMCID:: PMC1235559

Abstract Article PDF–1.0M

Select item 99375773.

DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

Kaoru Inoue, Hamed Bostan, MaKenna R. Browne, Owen F. Bevis, Carl D. Bortner, Steven A. Moore, Aaron A. Stence, Negin P. Martin, Shih-Heng Chen, Adam B. Burkholder, Jian-Liang Li, Natalie D. Shaw

Sci Adv. 2023 Feb; 9(7): eabq7744. Published online 2023 Feb 17. doi: 10.1126/sciadv.abq7744

PMCID:: PMC9937577

Abstract Article PDF–1.2M

Select item 80862554.

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang, Zhaoxia Wang, Cheng Zhang, Sophelia Hoi-Shan Chan, Qixi Wu, Liwen Wu, Shuang Wang, Hui Yan, Lin Ge, Haipo Yang, Bing Mao, Carsten Bönnemann, Jingying Liu, Suxia Wang, Yun Yuan, Xiru Wu, Hong Zhang, Hui Xiong

J Med Genet. 2021 May; 58(5): 326–333. Published online 2020 Jun 22. doi: 10.1136/jmedgenet-2019-106671

PMCID:: PMC8086255

Abstract Article PDF–797K

Select item 77957085.

Daniel J. Owens, Julien Messéant, Sophie Moog, Mark Viggars, Arnaud Ferry, Kamel Mamchaoui, Emmanuelle Lacène, Norma Roméro, Astrid Brull, Gisèle Bonne, Gillian Butler-Browne, Catherine Coirault

Int J Mol Sci. 2021 Jan; 22(1): 306. Published online 2020 Dec 30. doi: 10.3390/ijms22010306

PMCID:: PMC7795708

Abstract Article PDF–6.8M

Select item 70001406.

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

Cristina Cappelletti, Franco Salerno, Eleonora Canioni, Marina Mora, Renato Mantegazza, Pia Bernasconi, Lorenzo Maggi

Nucleus. 2018; 9(1): 398–409. Published online 2018 Oct 3. doi: 10.1080/19491034.2018.1471947

PMCID:: PMC7000140

Abstract Article PDF–2.3M

Select item 65984127.

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

PAOLA D’AMBROSIO, ROBERTA PETILLO, ANNALAURA TORELLA, ANDREA ANTONIO PAPA, ALBERTO PALLADINO, CHIARA ORSINI, MANUELA ERGOLI, LUIGIA PASSAMANO, ANTONIO NOVELLI, VINCENZO NIGRO, LUISA POLITANO

Acta Myol. 2019 Jun; 38(2): 33–36. Published online 2019 Jun 1.

PMCID:: PMC6598412

Abstract Article PDF–180K

Select item 58847868.

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

Alexandre Janin, Delphine Bauer, Francesca Ratti, Camille Valla, Anne Bertrand, Emilie Christin, Emilie Chopin, Nathalie Streichenberger, Gisèle Bonne, Vincent Gache, Tatiana Cohen, Alexandre Méjat

Sci Rep. 2018; 8: 5618. Published online 2018 Apr 4. doi: 10.1038/s41598-018-23918-x

PMCID:: PMC5884786

Abstract Article PDF–9.6M

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