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Publications by Chiara C Spinelli
A G613A Missense in the Hutchinson’s Progeria Lamin a/C Gene Causes a Lone, Autosomal Dominant Atrioventricular Block
Immunity and Ageing
Aging
Immunology
Related publications
a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
Electrophysiological and Histopathological Characteristics of Progressive Atrioventricular Block Accompanied by Familial Dilated Cardiomyopathy Caused by a Novel Mutation of Lamin a/C Gene
Journal of Cardiovascular Electrophysiology
Cardiovascular Medicine
Physiology
Cardiology
A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance
Journal of Medical Genetics
Genetics
Discordant Gene Expression Signatures and Related Phenotypic Differences in Lamin A- And a/C-Related Hutchinson-Gilford Progeria Syndrome (HGPS)
PLoS ONE
Multidisciplinary
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
American Journal of Human Genetics
Genetics
Accumulation of Mutant Lamin a Causes Progressive Changes in Nuclear Architecture in Hutchinson-Gilford Progeria Syndrome
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Identification of Lamin a/C ( LMNA ) Gene Mutations in Korean Patients With Autosomal Dominant Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy 1B
Journal of Human Genetics
Genetics
Neonatal Progeria: Increased Ratio of Progerin to Lamin a Leads to Progeria of the Newborn
European Journal of Human Genetics
Genetics
