Ciaccio C - Search Results

1

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: ciaccio c. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200

2

Abnormal cerebellar foliation in EBF3 mutation.

D'Arrigo S, Moscatelli M, Ciaccio C, Pantaleoni C, Castello R, Chiapparini L; TUDP Study Group. D'Arrigo S, et al. Among authors: ciaccio c. Neurology. 2020 May 26;94(21):933-935. doi: 10.1212/WNL.0000000000009486. Epub 2020 May 4. Neurology. 2020. PMID: 32366537 No abstract available.

3

A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.

Ciaccio C, Leonardi E, Polli R, Murgia A, D'Arrigo S, Granocchio E, Chiapparini L, Pantaleoni C, Esposito S. Ciaccio C, et al. Neuropediatrics. 2021 Dec;52(6):484-488. doi: 10.1055/s-0041-1725964. Epub 2021 Apr 14. Neuropediatrics. 2021. PMID: 33853164

4

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.

Hafdaoui S, Ciaccio C, Castellotti B, Sciacca FL, Pantaleoni C, D'Arrigo S. Hafdaoui S, et al. Among authors: ciaccio c. Front Neurol. 2023 Jul 20;14:1199095. doi: 10.3389/fneur.2023.1199095. eCollection 2023. Front Neurol. 2023. PMID: 37545716 Free PMC article.

5

Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm.

Marchese SM, Esposti R, Farinelli V, Ciaccio C, De Laurentiis A, D'Arrigo S, Cavallari P. Marchese SM, et al. Among authors: ciaccio c. Brain Sci. 2023 Apr 5;13(4):620. doi: 10.3390/brainsci13040620. Brain Sci. 2023. PMID: 37190585 Free PMC article.

6

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.

Ciaccio C, Pantaleoni C, Bulgheroni S, Sciacca F, D'Arrigo S. Ciaccio C, et al. Cerebellum. 2020 Oct;19(5):629-635. doi: 10.1007/s12311-020-01145-3. Cerebellum. 2020. PMID: 32472476

7

Periventricular heterotopia in a male child with USP9X missense variant.

De Laurentiis A, Ciaccio C, Erbetta A, Pinelli M, Nigro V, Pantaleoni C, D'Arrigo S. De Laurentiis A, et al. Among authors: ciaccio c. Am J Med Genet A. 2023 May;191(5):1350-1354. doi: 10.1002/ajmg.a.63123. Epub 2023 Jan 21. Am J Med Genet A. 2023. PMID: 36680497

8

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

Granocchio E, Pollina E, De Salvatore M, Scopelliti MR, Tanzi G, Sciacca FL, D'Arrigo S, Ciaccio C. Granocchio E, et al. Among authors: ciaccio c. Psychiatr Genet. 2024 Feb 1;34(1):19-23. doi: 10.1097/YPG.0000000000000355. Epub 2023 Dec 4. Psychiatr Genet. 2024. PMID: 38084626

9

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

Sciacca FL, Ciaccio C, Fontana F, Strano C, Gilardoni F, Pantaleoni C, D'Arrigo S. Sciacca FL, et al. Among authors: ciaccio c. Front Genet. 2020 May 13;11:399. doi: 10.3389/fgene.2020.00399. eCollection 2020. Front Genet. 2020. PMID: 32477400 Free PMC article.

10

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Ciaccio C, Taddei M, Pantaleoni C, Grisoli M, Di Bella D, Magri S, Taroni F, D'Arrigo S. Ciaccio C, et al. Cerebellum. 2024 Dec;23(6):2655-2670. doi: 10.1007/s12311-024-01733-7. Epub 2024 Aug 23. Cerebellum. 2024. PMID: 39177731 Free PMC article. Review.

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