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113 results

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Page 1
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.
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
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: nesti c. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.
Seitun S, Massobrio L, Rubegni A, Nesti C, Castiglione Morelli M, Boccalini S, Galletto Pregliasco A, Budaj I, Deferrari L, Rosa GM, Montecucco F, Valbusa A. Seitun S, et al. Among authors: nesti c. Case Rep Cardiol. 2016;2016:1490181. doi: 10.1155/2016/1490181. Epub 2016 Nov 7. Case Rep Cardiol. 2016. PMID: 27891257 Free PMC article.
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
A Child With Ichthyosis and Liver Failure.
Indolfi G, Iascone M, Remaschi G, Donati MA, Nesti C, Rubegni A, Pezzoli L, Buccoliero AM, Santorelli FM, Resti M. Indolfi G, et al. Among authors: nesti c. J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e70-e73. doi: 10.1097/MPG.0000000000001645. J Pediatr Gastroenterol Nutr. 2017. PMID: 28562522 No abstract available.
113 results