Ilaria D'Amato

发表

TRPA1 rare variants in chronic neuropathic and nociplastic pain patients

M. de Tommaso, S. Dib-Hajj, S. Waxman, 2023, Pain.

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A

E. Salvi, G. Lauria, R. Lombardi, 2021, Pain.

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy

S. Waxman, E. Salvi, G. Lauria, 2023, Brain : a journal of neurology.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

V. Tiranti, D. Brunetti, G. d’Amati, 2012 .

Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing

F. Tagliavini, G. Rossi, G. Fede, 2016, Neurobiology of Aging.

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

L. Santoro, M. Nolano, V. Provitera, 2018, Journal of the peripheral nervous system : JPNS.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

V. Tiranti, M. Zeviani, F. Invernizzi, 2012, Mitochondrion.

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

P. Tiraboschi, F. Tagliavini, A. Giovagnoli, 2016, Neurobiology of Aging.

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

P. Bovolenta, V. Tiranti, M. Zeviani, 2012 .