The scientist’s investigation covers issues in Genetics, Mutation, LMNA, Progeria and Lamin. In his research, Nicolas Lévy performs multidisciplinary study on Genetics and Premature aging. Nicolas Lévy has researched Mutation in several fields, including Genetic variation and Cell biology.
His LMNA research incorporates elements of Nuclear lamina and Emerin. His work carried out in the field of Progeria brings together such families of science as Progerin, Phenocopy and Bioinformatics. The various areas that he examines in his Mandibuloacral dysplasia study include Molecular biology, Compound heterozygosity and Pathology.
His main research concerns Genetics, Gene, Mutation, Pathology and Progeria. LMNA, Phenotype, Missense mutation, Dysferlin and Exon are the primary areas of interest in his Genetics study. His Gene study combines topics in areas such as Molecular biology, Muscular dystrophy and Disease.
Many of his studies on Mutation involve topics that are commonly interrelated, such as Genetic heterogeneity. His work deals with themes such as Lamin, Progerin, Restrictive dermopathy and Cell biology, which intersect with Progeria. His Lamin study integrates concerns from other disciplines, such as Cancer research and Nuclear lamina.
Genetics, Gene, Cell biology, Phenotype and Missense mutation are his primary areas of study. The various areas that Nicolas Lévy examines in his Cell biology study include Chromatin, Progerin and Progeria. His research integrates issues of Progeroid syndromes, Annexin and Hutchinson Gilford Progeria Syndrome in his study of Progeria.
His Phenotype study combines topics in areas such as Mutation, STIM1, Disease and Neuroscience. His Missense mutation research integrates issues from Limb-girdle muscular dystrophy and Exon. Nicolas Lévy studied Mandibuloacral dysplasia and Pathology that intersect with LMNA.
Nicolas Lévy mostly deals with Genetics, Phenotype, Missense mutation, Disease and Gene. Allele, Genetic counseling, Limb-girdle muscular dystrophy, Gene duplication and Subtelomere are among the areas of Genetics where the researcher is concentrating his efforts. While the research belongs to areas of Allele, he spends his time largely on the problem of Epigenetics, intersecting his research to questions surrounding Mutation.
His studies deal with areas such as Exome sequencing, Exome, Barrier to autointegration factor 1 and Bioinformatics as well as Missense mutation. Nicolas Lévy combines subjects such as Cholestasis, Immunology, Diarrhea and Myosin with his study of Gene. His studies in MG132 integrate themes in fields like Lamin, LMNA and Cancer research.
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Lamin a truncation in hutchinson-gilford progeria
Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Pierre Cau;Claire Navarro.
Science (2003)
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Annachiara De Sandre-Giovannoli;Malika Chaouch;Serguei Kozlov;Jean Michel Vallat.
American Journal of Human Genetics (2002)
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Ignacio Varela;Sandrine Pereira;Alejandro P Ugalde;Claire L Navarro.
Nature Medicine (2008)
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Claire L. Navarro;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Irène Boccaccio.
Human Molecular Genetics (2004)
Splicing-directed therapy in a new mouse model of human accelerated aging.
Fernando G. Osorio;Claire L. Navarro;Juan Cadiñanos;Isabel C. López-Mejía.
Science Translational Medicine (2011)
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Claire L. Navarro;Juan Cadiñanos;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard.
Human Molecular Genetics (2005)
SRPX2 mutations in disorders of language cortex and cognition
Patrice Roll;Gabrielle Rudolf;Sandrine Pereira;Barbara Royer.
Human Molecular Genetics (2006)
Phenotypic Study in 40 Patients With Dysferlin Gene Mutations: High Frequency of Atypical Phenotypes
Karine Nguyen;Guillaume Bassez;Martin Krahn;Rafaelle Bernard.
JAMA Neurology (2007)
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
Kamel Mamchaoui;Kamel Mamchaoui;Kamel Mamchaoui;Capucine Trollet;Capucine Trollet;Capucine Trollet;Anne Bigot;Anne Bigot;Anne Bigot;Elisa Negroni;Elisa Negroni;Elisa Negroni.
Skeletal Muscle (2011)
Molecular bases of progeroid syndromes
Claire L. Navarro;Pierre Cau;Nicolas Lévy.
Human Molecular Genetics (2006)
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