| Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease A Indrieri, VA Van Rahden, V Tiranti, M Morleo, D Iaconis, R Tammaro, ... The American Journal of Human Genetics 91 (5), 942-949, 2012 | 140 | 2012 |
| Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells F Invernizzi, I D'amato, PB Jensen, S Ravaglia, M Zeviani, V Tiranti Mitochondrion 12 (2), 328-335, 2012 | 111 | 2012 |
| Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model D Brunetti, S Dusi, M Morbin, A Uggetti, F Moda, I D'Amato, C Giordano, ... Human molecular genetics 21 (24), 5294-5305, 2012 | 108 | 2012 |
| A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia M Marchi, V Provitera, M Nolano, M Romano, S Maccora, I D'Amato, ... Journal of the Peripheral Nervous System 23 (3), 202-206, 2018 | 30 | 2018 |
| Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features CM Karch, L Ezerskiy, V Redaelli, AR Giovagnoli, P Tiraboschi, ... Neurobiology of aging 38, 215. e1-215. e12, 2016 | 23 | 2016 |
| Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing E Piccoli, G Rossi, T Rossi, G Pelliccioni, I D'Amato, F Tagliavini, ... Neurobiology of Aging 40, 192. e7-192. e11, 2016 | 18 | 2016 |
| Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A M Marchi, I D'Amato, M Andelic, D Cartelli, E Salvi, R Lombardi, E Gumus, ... Pain 163 (7), e882-e887, 2022 | 6 | 2022 |
| TRPA1 rare variants in chronic neuropathic and nociplastic pain patients M Marchi, E Salvi, M Andelic, E Mehmeti, I D'Amato, D Cazzato, ... Pain, 10.1097, 2022 | 3 | 2022 |
| Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy M Andelic, E Salvi, S Marcuzzo, M Marchi, R Lombardi, D Cartelli, ... Brain 146 (7), 3049-3062, 2023 | 1 | 2023 |
| TRPA1 RARE VARIANTS IN CHRONIC NEUROPATHIC PAIN PATIENTS M Marchi, E Salvi, E Mehmeti, M Andelic, D Cazzato, G Devigili, I D'Amato, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 27, S87-S88, 2022 | | 2022 |
| Congenital insensitivity to pain: molecular characterization of a novel disrupting mutation in SCN9A MM Marchi, I D'Amato, M Andelic, E Salvi, D Cartelli, R Lombardi, G Evren, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 122-122, 2022 | | 2022 |
| Ricolinostat induces microtubule acetylation and neurite regeneration in cellular models of diabetic and chemotheraphy-induced neuropathy D Cartelli, S Mazzetti, R Lombardi, D Cazzato, M Andelic, M Marchi, ... Journal of the Neurological Sciences 429, 2021 | | 2021 |
| Comparison of molecular inversion probe versus Truseq (R) custom methods for targeted next-generation sequencing in peripheral neuropathy R Almomani, M Marchi, E Salvi, S Magri, I D'Amato, P Lindsey, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1653-1654, 2019 | | 2019 |
| Gene-wise burden analysis on painful diabetic neuropathy E Salvi, M Marchi, M Gerrits, R Almomani, I D'Amato, RA Malik, D Ziegler, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1222-1223, 2019 | | 2019 |
| Genetic profiling of voltage-gated sodium cannels in painful and painless diabetic neuropathy M Marchi, M Molasy, R Almomani, M Gerrits, E Salvi, I D'Amato, R Malik, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 547-547, 2019 | | 2019 |
| VARIANT-TO-GENE APPROACH: SCOUTING THE GENETIC RISK FACTOR IN AN ITALIAN COHORT WITH PAINFUL SMALL FIBRE NEUROPATHY M Marchi, E Salvi, I D'Amato, D Cazzato, R Lombardi, M Paolini, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 24, S30-S31, 2019 | | 2019 |
| GENETIC PROFILING OF VOLTAGE-GATED SODIUM CHANNELS IN PAINFUL AND PAINLESS DIABETIC NEUROPATHY M Marchi, M Gerrits, R Almomani, E Salvi, I D'Amato, A Giustiniani, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 23, S26-S26, 2018 | | 2018 |
| Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates A Indrieri, V Van Rahden, V Tiranti, I Conte, J Quartararo, M Morleo, ... BBA-Bioenergetics, S157, 2012 | | 2012 |
