D'Amato I - Search Results

1

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

Piccoli E, Rossi G, Rossi T, Pelliccioni G, D'Amato I, Tagliavini F, Di Fede G. Piccoli E, et al. Among authors: d amato i. Neurobiol Aging. 2016 Apr;40:192.e7-192.e11. doi: 10.1016/j.neurobiolaging.2016.01.134. Epub 2016 Feb 28. Neurobiol Aging. 2016. PMID: 26925509

2

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

Karch CM, Ezerskiy L, Redaelli V, Giovagnoli AR, Tiraboschi P, Pelliccioni G, Pelliccioni P, Kapetis D, D'Amato I, Piccoli E, Ferretti MG, Tagliavini F, Rossi G. Karch CM, et al. Among authors: d amato i. Neurobiol Aging. 2016 Feb;38:215.e1-215.e12. doi: 10.1016/j.neurobiolaging.2015.10.029. Epub 2015 Nov 2. Neurobiol Aging. 2016. PMID: 26652843 Free PMC article.

3

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

Marchi M, Provitera V, Nolano M, Romano M, Maccora S, D'Amato I, Salvi E, Gerrits M, Santoro L, Lauria G. Marchi M, et al. Among authors: d amato i. J Peripher Nerv Syst. 2018 Sep;23(3):202-206. doi: 10.1111/jns.12280. Epub 2018 Jul 23. J Peripher Nerv Syst. 2018. PMID: 29978519 Free PMC article.

4

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

Marchi M, D'Amato I, Andelic M, Cartelli D, Salvi E, Lombardi R, Gumus E, Lauria G. Marchi M, et al. Among authors: d amato i. Pain. 2022 Jul 1;163(7):e882-e887. doi: 10.1097/j.pain.0000000000002535. Epub 2021 Nov 15. Pain. 2022. PMID: 34799533 Free PMC article.

5

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

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Indrieri A, et al. Among authors: d amato i. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article.

6

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

Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V. Brunetti D, et al. Among authors: d amato i. Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983956 Free PMC article.

7

TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.

Marchi M, Salvi E, Andelic M, Mehmeti E, D'Amato I, Cazzato D, Chiappori F, Lombardi R, Cartelli D, Devigili G, Dalla Bella E, Gerrits M, Almomani R, Malik RA, Ślęczkowska M, Mazzeo A, Gentile L, Dib-Hajj S, Waxman SG, Faber CG, Vecchio E, de Tommaso M, Lauria G. Marchi M, et al. Among authors: d amato i. Pain. 2023 Sep 1;164(9):2048-2059. doi: 10.1097/j.pain.0000000000002905. Epub 2023 Apr 19. Pain. 2023. PMID: 37079850 Free PMC article.

8

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

Andelic M, Salvi E, Marcuzzo S, Marchi M, Lombardi R, Cartelli D, Cazzato D, Mehmeti E, Gelemanovic A, Paolini M, Pardo C, D'Amato I, Hoeijmakers JGJ, Dib-Hajj S, Waxman SG, Faber CG, Lauria G. Andelic M, et al. Among authors: d amato i. Brain. 2023 Jul 3;146(7):3049-3062. doi: 10.1093/brain/awad025. Brain. 2023. PMID: 36730021 Free PMC article.

9

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

Invernizzi F, D'Amato I, Jensen PB, Ravaglia S, Zeviani M, Tiranti V. Invernizzi F, et al. Mitochondrion. 2012 Mar;12(2):328-35. doi: 10.1016/j.mito.2012.01.001. Epub 2012 Jan 28. Mitochondrion. 2012. PMID: 22310368 Free PMC article.

10

Dynamics of the Fermentation Process and Chemical Profiling of Pomegranate (Punica granatum L.) Wines Obtained by Different Cultivar×Yeast Combinations.

Cardinale M, Trinchera R, Natrella G, Difonzo G, De Benedittis C, D'amato I, Mascellani M, Paradiso VM, Rustioni L. Cardinale M, et al. Among authors: d amato i. Foods. 2021 Aug 18;10(8):1913. doi: 10.3390/foods10081913. Foods. 2021. PMID: 34441690 Free PMC article.

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