Results 101 to 110 of about 3,036 (198)

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? [PDF]

, 2016
Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, Amal Alhashem, Fowzan S. Alkuraya   +4 more
openalex   +1 more source

Protein structural and mechanistic basis of progeroid laminopathies [PDF]

, 2020
Agathe Marcelot, Howard J. Worman, Sophie Zinn‐Justin   +2 more
openalex   +1 more source

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy [PDF]

, 2021
Anne-Claire Guénantin, Imen Jebeniani, Julia Leschik, Erwan Watrin, Gisèle Bonne, Nicolas Vignier, Michel Pucéat   +6 more
openalex   +1 more source

P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy [PDF]

Rosalie M. Sterner, Lea M. Coon, John L. Black, Joseph J. Maleszewski, Ann M. Moyer, Linnea M. Baudhuin   +5 more
openalex   +1 more source

Accumulation of the Inner Nuclear Envelope Protein Sun1 Is Pathogenic in Progeric and Dystrophic Laminopathies [PDF]

, 2012
Chia‐Yen Chen, Ya‐Hui Chi, Rafidah Mutalif, Matthew F. Starost, Timothy G. Myers, Stasia A. Anderson, Colin L. Stewart, Kuan‐Teh Jeang   +7 more
openalex   +1 more source

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

, 2021
Saeed Farajzadeh Valilou, Javad Karimzad Hagh, Mohammad Salimi Asl, Isa Abdi Rad, Masoud Edizadeh, Arash Pooladi   +5 more
openalex   +1 more source

How nuclear envelope dynamics can direct laminopathy phenotypes

, 2023
D. Van Heerden, Stefanie Klima, Iman van den Bout   +2 more
openalex   +1 more source

Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSCs [PDF]

, 2011
Guang‐Hui Liu, Keiichiro Suzuki, Jing Qu, Ignacio Sancho-Martinez, Fei Yi, Mo Li, Sachin Kumar, Emmanuel Nivet, Jessica Kim, Rupa Devi Soligalla, Ilir Dubova, April Goebl, Nongluk Plongthongkum, Ho-Lim Fung, Kun Zhang, Jeanne F. Loring, Louise C. Laurent, Juan Carlos Izpisua Belmonte   +17 more
openalex   +1 more source

Laminopathies: A Pandora's box of heart failure, bradyarrhythmias and sudden death

, 2015
Nuno Cabanelas, Vítor Martins
openalex   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]

JACC Case Rep
Sterner RM, Coon LM, Black JL, Moyer AM, Maleszewski JJ, Baudhuin LM.   +5 more
europepmc   +1 more source