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MG132-induced progerin clearance is mediated by autophagy activation and splicing regulationEMBO MOLECULAR MEDICINEIF8.32017-07-03101OAAI
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Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspectiveSEMINARS IN CELL & DEVELOPMENTAL BIOLOGYIF62014-05-0153OAAI
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High prevalence of laminopathies among patients with metabolic syndromeHUMAN MOLECULAR GENETICSIF3.22011-06-3053OAAI
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndromeJOURNAL OF MEDICAL GENETICSIF3.72010-06-0322PREAI
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPARHUMAN MOLECULAR GENETICSIF3.22008-08-21108OAAI
HGPS and related premature aging disorders:: From genomic identification to the first therapeutic approachesMECHANISMS OF AGEING AND DEVELOPMENTIF5.12008-07-0161PREAI
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature agingNATURE MEDICINEIF502008-06-29365PREAI
SRPX2 mutations in disorders of language cortex and cognitionHUMAN MOLECULAR GENETICSIF3.22006-02-23240OAAI
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursorsHUMAN MOLECULAR GENETICSIF3.22005-04-20265OAAI
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyHUMAN MOLECULAR GENETICSIF3.22004-08-18319OAAI
Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2ANEUROLOGYIF8.52004-07-1341PREAI
Regulation of calcium channel α1A subunit splice variant mRNAs in kainate-induced temporal lobe epilepsyNEUROBIOLOGY OF DISEASEIF5.61999-08-0125PREAI
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionNATURE GENETICSIF31.81997-11-01233PREAI
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