Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Nicola Perrotti

A Novel ABCC6 Variant Causative of Pseudoxanthoma Elasticum

Human Genome Variation

Molecular Biology

English

GP15 Phenylalanine Measurements in Human Blood Using NIR Spectroscopy and DBS, a Preliminary Study

English

Related publications

Pseudoxanthoma Elasticum: A Clinical, Pathophysiological and Genetic Update Including 11 Novel ABCC6 Mutations

Journal of Medical Genetics

English

Novel Mutation in ABCC6 Gene in a Japanese Pedigree With Pseudoxanthoma Elasticum and Retinitis Pigmentosa

Sensory Systems

English

405 Adenovirus-Mediated ABCC6 Gene Therapy Prevents Ectopic Mineralization in an Abcc6 Mouse Model of Pseudoxanthoma Elasticum

Journal of Investigative Dermatology

Molecular Biology

English

Elevated Dietary Magnesium Prevents Connective Tissue Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−)

Journal of Investigative Dermatology

Molecular Biology

English

Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations

Journal of Investigative Dermatology

Molecular Biology

English

ABCC6 Prevents Ectopic Mineralization Seen in Pseudoxanthoma Elasticum by Inducing Cellular Nucleotide Release

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Pseudoxanthoma Elasticum

English

Pseudoxanthoma Elasticum and Statin Prophylaxis

Journal of Molecular Medicine

Molecular Medicine

English

Subarachnoid Haemorrhage in Pseudoxanthoma Elasticum

Postgraduate Medical Journal

English