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Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Helman G, et al. Among authors: aiello c. Genet Med. 2021 Aug 27. doi: 10.1038/s41436-021-01286-8. Online ahead of print. Genet Med. 2021. PMID: 34446925
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
Battini R, Milone R, Aiello C, Astrea G, Sferra A, Pasquariello R, Cioni G, Bertini E. Battini R, et al. Among authors: aiello c. Brain Dev. 2021 Jun 13:S0387-7604(21)00116-9. doi: 10.1016/j.braindev.2021.05.015. Online ahead of print. Brain Dev. 2021. PMID: 34134906
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: aiello c. Neurol Genet. 2021 Feb 2;7(2):e559. doi: 10.1212/NXG.0000000000000559. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977142 Free PMC article.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: aiello c. Brain. 2021 May 8:awab185. doi: 10.1093/brain/awab185. Online ahead of print. Brain. 2021. PMID: 33964137
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