Results 91 to 100 of about 2,659 (169)

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy

Molecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +1 more source

Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health. [PDF]

Curr Heart Fail Rep
Torfs T, Veltrop RJA, Lezzoche G, Heymans SRB, Verdonschot JAJ, Nabben M.   +5 more
europepmc   +1 more source

The dual face of lamin A/C cardiomyopathy: risk prediction of heart failure and arrhythmias. [PDF]

Eur Heart J
Heymans S.
europepmc   +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

Laminopathies

, 2013
Tomas McKenna, Jean-Ha Baek, Maria Eriksso   +2 more
openaire   +2 more sources

A Rare Instance of Concordant Charcot-Marie-Tooth Disease and Familial Partial Lipodystrophy Type 2. [PDF]

Cureus
Bachir MA, Hazzard I, Bachir AS, Chima G, Chima B.   +4 more
europepmc   +1 more source

The impact of alterations in lamin A on genome integrity. [PDF]

Mutat Res Rev Mutat Res
DiCintio AJ, Waldman AS.
europepmc   +1 more source

Phenotypic diversity of the LMNA mutations. [PDF]

Curr Opin Cardiol
Marian AJ.
europepmc   +1 more source

Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies. [PDF]

Acta Myol
Schena E, Pini A, Cavalcante P, Siciliano G, Ricci G.   +4 more
europepmc   +1 more source