Associated Papers
Charcot-Marie-Tooth disease and related neuropathies.
Burns J et al.
Nature Reviews. Disease Primers, 2026
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.
Landouré G et al.
Nature Reviews. Neurology, 2025
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Dynamic Post-translational Modifications of Nuclear Lamins in Cellular Function and Pathophysiology.
Sharma A et al.
Sub-cellular Biochemistry, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Chemoproteogenomic stratification of the missense variant cysteinome.
Desai H et al.
Nature Communications, 2024
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Chang L et al.
Bmc Medical Genomics, 2023
The stability of the myelinating oligodendrocyte transcriptome is regulated by the nuclear lamina.
Pruvost M et al.
Cell Reports, 2023
Multi-omic stratification of the missense variant cysteinome.
Desai H et al.
Biorxiv : the Preprint Server for Biology, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Lamin Filament Assembly Derived from the Atomic Structure of the Antiparallel Four-Helix Bundle.
Ahn J et al.
Molecules and Cells, 2023
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
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Molecular Pathology of Laminopathies.
Shin JY et al.
Annual Review of Pathology, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Preclinical Advances of Therapies for Laminopathies.
Benarroch L et al.
Journal of Clinical Medicine, 2021
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
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Maggi L et al.
International Journal of Molecular Sciences, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Nuclear Envelope and Nuclear Pore Complexes in Neurodegenerative Diseases-New Perspectives for Therapeutic Interventions.
Hachiya N et al.
Molecular Neurobiology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim JW et al.
Journal of the American College of Cardiology, 2020
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.
Lin EW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.
Shani V et al.
Human Molecular Genetics, 2019
Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections.
Östlund C et al.
Experimental Biology and Medicine (maywood, N.j.), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ et al.
European Journal of Human Genetics : Ejhg, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping.
Li D et al.
Trends in Pharmacological Sciences, 2018
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.
Perovanovic J et al.
Physiological Genomics, 2018
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Roca I et al.
International Journal of Molecular Sciences, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.
Janin A et al.
Orphanet Journal of Rare Diseases, 2017
LMNA Mutations Associated With Mild and Late-Onset Phenotype: The Case of the Dutch Founder Mutation p.(Arg331Gln).
Arbustini E et al.
Circulation. Cardiovascular Genetics, 2017