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132 results

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Page 1
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.
Cesaroni CA, Pisanò G, Trimarchi G, Caraffi SG, Scandolo G, Gnazzo M, Frattini D, Spagnoli C, Rizzi S, Dittadi C, Sigona G, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: spagnoli c. Cerebellum. 2024 Oct;23(5):1768-1771. doi: 10.1007/s12311-023-01617-2. Epub 2023 Oct 13. Cerebellum. 2024. PMID: 37831383
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Ciof E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: spagnoli c. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.
Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report.
Cesaroni CA, Frattini D, Lecis M, Bonvicini F, Bartolomeo D, Rizzi S, Spagnoli C, Napoli M, Pascarella R, De Fanti A, Fusco C. Cesaroni CA, et al. Among authors: spagnoli c. Neurohospitalist. 2024 Jan;14(1):64-68. doi: 10.1177/19418744231205626. Epub 2023 Oct 9. Neurohospitalist. 2024. PMID: 38235031 Free PMC article.
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A, Caraffi SG, Rizzi S, Trimarchi G, Napoli M, Frattini D, Spagnoli C, Garavelli L, Fusco C. Cavalli A, et al. Among authors: spagnoli c. BMC Med Genomics. 2024 Mar 5;17(1):68. doi: 10.1186/s12920-024-01840-8. BMC Med Genomics. 2024. PMID: 38443934 Free PMC article. Review.
Neonatal forearm compartment syndrome: look for cerebral stroke.
Pavlidis E, Spagnoli C, Duca M, Ormitti F, Magnani C, Pisani F. Pavlidis E, et al. Among authors: spagnoli c. J Pediatr. 2014 Feb;164(2):427.e1. doi: 10.1016/j.jpeds.2013.10.018. Epub 2013 Nov 16. J Pediatr. 2014. PMID: 24252794 No abstract available.
132 results