Results 281 to 288 of about 22,553 (288)

LMNA -associated myopathies

Neurology, 2014
Our aim was to conduct a comparative study in a large cohort of myopathic patients carrying LMNA gene mutations to evaluate clinical and molecular features associated with different phenotypes.We performed a retrospective cohort study of 78 myopathic patients with LMNA mutation and 30 familial cases with LMNA mutation without muscle involvement.
Maggi, Lorenzo, D'Amico, Adele, Pini, Antonella, Sivo, Serena, Pane, Marika, Ricci, Giulia, Vercelli, Liliana, D'Ambrosio, Paola, Travaglini, Lorena, Sala, Simone, Brenna, Greta, Kapetis, Dimos, Scarlato, Marina, Pegoraro, Elena, Ferrari, Maurizio, Toscano, Antonio, BENEDETTI, SARA, Bernasconi, Pia, Colleoni, Lara, Lattanzi, Giovanna, Bertini, Enrico, Mercuri, Eugenio, SICILIANO, GABRIELE, Rodolico, Carmelo, Mongini, Tiziana, Politano, Luisa, Previtali, Stefano C, Carboni, Nicola, Mantegazza, Renato, Morandi, Lucia   +29 more
openaire   +9 more sources

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

Nature Genetics, 2000
The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase.
Shackleton, S, Lloyd, DJ, Jackson, SN, Evans, R, Niermeijer, MF, Singh, BM, Schmidt, H, Brabant, G, Kumar, S, Durrington, PN, Gregory, S, O'Rahilly, S, Trembath, RC   +12 more
openaire   +4 more sources

Novel LMNA mutation in a patient with progeroid phenotype

Journal of Pediatric Neurology, 2015
Hutchinson-Gilford progeria syndrome is an autosomal dominant condition, which presents in early childhood with symptoms of premature aging and early death. The allelic disorder, mandibuloacral dysplasia is a disorder with progeroid facial appearance, mandibular hypoplasia and acro-osteolysis.
Dusica Babovic-Vuksanovic, Norbert G. Campeau, Deborah L. Renaud, Lenora M. Lehwald   +3 more
openaire   +2 more sources

The LMNA p.R541C mutation causes dilated cardiomyopathy in human and mice.

International Journal of Cardiology, 2022
Lu-jia Yang, Jinhuan Sun, Zhan Chen, Lei Liu, Yueshen Sun, Junsen Lin, Xiaomin Hu, Mingming Zhao, Yuanwu Ma, Dan Lu, Yifei Li, Yuxuan Guo, Er-dan Dong   +12 more
semanticscholar   +1 more source

Gene symbol: LMNA.

Human genetics, 2007
E. Arbustini, M. Pasotti, A. Pilotto, M. Diegoli, A. Brega, E. Disabella, M. Grasso, N. Marziliano   +7 more
openaire   +5 more sources

LMNA (Laminopathy) Research

2021
openaire   +1 more source

Phenotypic diversity of the LMNA mutations

Current Opinion in Cardiology
openaire   +2 more sources

Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD)

2022
openaire   +2 more sources