Ilaria D'amato
Milan, Italy
Last Updated: 09/26/2026
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Found 11 publications
A unique case of late-onset CIPO caused by a missense mutation in the long isoform of FLNA.
Journal: Frontiers in genetics
Published: April 14, 2025
Sensory neuron-expressed FGF13 controls nociceptive signaling in diabetic neuropathy models.
Journal: The Journal of clinical investigation
Published: June 11, 2024
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Journal: Pain
Published: November 09, 2022
Integrative miRNA-mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy.
Journal: Brain : a journal of neurology
Published: October 03, 2022
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
Journal: Journal of the peripheral nervous system : JPNS
Published: May 24, 2018
Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
Journal: Neurobiology of aging
Published: November 10, 2015
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Journal: Human molecular genetics
Published: September 18, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Journal: American journal of human genetics
Published: July 26, 2012
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Journal: Mitochondrion
Published: October 13, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026