Published in Trends Mol Med on September 01, 2003
Nuclear mechanics and mechanotransduction in health and disease. Curr Biol (2013) 1.51
Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest. Mol Cell Biol (2006) 1.19
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet (2005) 1.12
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Neurogenetics (2006) 0.86
Protein farnesylation and disease. J Inherit Metab Dis (2012) 0.83
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain (2014) 0.83
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. Mol Syndromol (2011) 0.75
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics (2005) 1.34
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians. Pancreas (2011) 1.12
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab (2009) 1.08
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab (2007) 0.97
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet (2011) 0.90
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol (2002) 0.90
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A (2005) 0.89
The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle (2008) 0.85
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). Neuromuscul Disord (2002) 0.84
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. Gene Expr (2004) 0.83
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. Cell Cycle (2012) 0.83
Protein farnesylation and disease. J Inherit Metab Dis (2012) 0.83
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Bone (2010) 0.82
Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy. Biochim Biophys Acta (2012) 0.82
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. Histochem Cell Biol (2012) 0.80
Elbow deformities in a patient with mandibuloacral dysplasia type A. Am J Med Genet A (2010) 0.80
The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis (2012) 0.80
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol (2015) 0.78
Denaturing HPLC in laboratory diagnosis of hereditary angioedema. J Allergy Clin Immunol (2007) 0.77
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program. Acta Haematol (2009) 0.76
CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease. Inflamm Bowel Dis (2004) 0.76
Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity. Sarcoidosis Vasc Diffuse Lung Dis (2004) 0.75
Towards the pharmacogenomics of cystic fibrosis. Pharmacogenomics (2002) 0.75
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. Genet Test Mol Biomarkers (2009) 0.75
Toward the pharmacogenomics of cystic fibrosis--an update. Pharmacogenomics (2004) 0.75