Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Natural history of skeletal muscle laminopathies: a 2-year prospective study.
Santovito LS et al.
Neuromuscular Disorders : Nmd, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations.
Le Dour C et al.
Nature Communications, 2022
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].
Nakamura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.
Dridi H et al.
Human Molecular Genetics, 2021
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Chatzifrangkeskou M et al.
Human Molecular Genetics, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
Iwahara N et al.
Bmc Neurology, 2015
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.
Magagnotti C et al.
Biochimica Et Biophysica Acta, 2012
Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.
Meune C et al.
Neuromuscular Disorders : Nmd, 2012
Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.
Boudoulas KD et al.
Acta Pharmacologica Sinica, 2011
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 2006
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL et al.
Physiological Reviews, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
Vital A et al.
Neuromuscular Disorders : Nmd, 2005
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Benedetti S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Walter MC et al.
Neuromuscular Disorders : Nmd, 2005
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
Ben Yaou R et al.
Revue Neurologique, 2005
[Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM et al.
Bulletin De L'academie Nationale De Medecine, 2005
Laminopathies: from the heart of the cell to the clinics.
Benedetti S et al.
Current Opinion in Neurology, 2004
Autosomal recessive forms of Charcot-Marie-Tooth disease.
Vallat JM et al.
Current Neurology and Neuroscience Reports, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Goizet C et al.
Journal of Medical Genetics, 2004