Associated Papers
An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.
Xu D et al.
Heliyon, 2023
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.
Harhouri K et al.
Cells, 2022
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.
Wang J et al.
Frontiers in Pediatrics, 2022
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Volkening K et al.
Molecular and Cellular Biochemistry, 2021
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Bergant G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F et al.
European Journal of Human Genetics : Ejhg, 2015
Hutchinson-Gilford progeria syndrome.
Ullrich NJ et al.
Handbook of Clinical Neurology, 2015
Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
Cau P et al.
Seminars in Cell & Developmental Biology, 2014
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
Oshima J et al.
Gerontology, 2014
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama FM et al.
American Journal of Medical Genetics. Part A, 2011