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Page 1
Expanded phenotype of AARS1-related white matter disease.
Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27.
Genet Med. 2021.
PMID: 34446925
Free article.
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S, Degiorgi A, Ceccatelli Berti C, Baruffini E, Dallabona C, Goffrini P.
Figuccia S, et al.
Int J Mol Sci. 2021 Apr 26;22(9):4524. doi: 10.3390/ijms22094524.
Int J Mol Sci. 2021.
PMID: 33926074
Free PMC article.
Review.
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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD, Figuccia S, Bellacchio E, Alvarez K, Castiglioni C, Topaloglu P, Stutterd CA, Erasmus CE, Sanchez-Valle A, Lebon S, Hughes S, Schmitt-Mechelke T, Vasco G, Chow G, Rahikkala E, Dallabona C, Okuma C, Aiello C, Goffrini P, Abbink TEM, Bertini ES, Van der Knaap MS.
Stellingwerff MD, et al. Among authors: figuccia s.
Neurol Genet. 2021 Feb 2;7(2):e559. doi: 10.1212/NXG.0000000000000559. eCollection 2021 Apr.
Neurol Genet. 2021.
PMID: 33977142
Free PMC article.
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Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress.
Ceccatelli Berti C, Gihaz S, Figuccia S, Choi JY, Pal AC, Goffrini P, Ben Mamoun C.
Ceccatelli Berti C, et al. Among authors: figuccia s.
Int J Mol Sci. 2022 Dec 27;24(1):435. doi: 10.3390/ijms24010435.
Int J Mol Sci. 2022.
PMID: 36613877
Free PMC article.
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