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113 results

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Page 1
Four years follow up of ACY1 deficient patient and pedigree study.
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R. Alessandrì MG, et al. Among authors: nesti c. Brain Dev. 2018 Aug;40(7):570-575. doi: 10.1016/j.braindev.2018.03.009. Epub 2018 Apr 10. Brain Dev. 2018. PMID: 29653693
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: nesti c. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.
Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: nesti c. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211
Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C, Galatolo D, Rubegni A, Doccini S, Pasquariello R, Nesti C, Sicca F, Barghigiani M, Battini R, Tessa A, Santorelli FM. Dosi C, et al. Among authors: nesti c. Ann Clin Transl Neurol. 2020 Apr;7(4):595-601. doi: 10.1002/acn3.51024. Epub 2020 Apr 1. Ann Clin Transl Neurol. 2020. PMID: 32237276 Free PMC article.
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.
Mancardi MM, Nesti C, Febbo F, Cordani R, Siri L, Nobili L, Lampugnani E, Giacomini T, Granata T, Marucci G, Consales A, Rossi A, Luria G, Santorelli FM, Buratti S. Mancardi MM, et al. Among authors: nesti c. Brain Dev. 2021 May;43(5):644-651. doi: 10.1016/j.braindev.2020.12.017. Epub 2021 Jan 21. Brain Dev. 2021. PMID: 33485697
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
Tolomeo D, Rubegni A, Nesti C, Barghigiani M, Battini R, D'Amore F, Doccini S, Donati MA, Galatolo D, Giglio S, Guarducci S, Pantaleo M, Pasquariello R, Procopio E, Pochiero F, Tessa A, Santorelli FMM. Tolomeo D, et al. Among authors: nesti c. J Med Genet. 2021 Aug;58(8):543-546. doi: 10.1136/jmedgenet-2020-107644. Epub 2021 Jun 16. J Med Genet. 2021. PMID: 34135091 No abstract available.
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D, Orsucci D, Nesti C, Baldacci J, Battini R, Bruno C, Bruno G, Cassandrini D, Doccini S, Donati MA, Ferrari A, Fiori S, Fiorillo C, Guerrini R, Mari F, Montomoli M, Pochiero F, Procopio E, Ruggiero L, Sampaolo S, Sicca F, Ticci C, Rubegni A, Santorelli FM. Tolomeo D, et al. Among authors: nesti c. J Clin Med. 2021 Jul 22;10(15):3222. doi: 10.3390/jcm10153222. J Clin Med. 2021. PMID: 34362006 Free PMC article.
113 results