Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: ticci c. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Pane M, Stanca G, Ticci C, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Palermo C, Berti B, Leone D, Sacchini M, Cerboneschi M, Fanelli L, Norcia G, Forcina N, Capasso A, Cicala G, Antonaci L, Ricci M, Pera MC, Bravetti C, Donati MA, Procopio E, Abiusi E, Vaisfeld A, Onesimo R, Tiziano FD, Mercuri E. Pane M, et al. Among authors: ticci c. Eur J Pediatr. 2024 Apr 18. doi: 10.1007/s00431-024-05546-y. Online ahead of print. Eur J Pediatr. 2024. PMID: 38634892
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Buchignani B, Cicala G, Cumbo F, Ricci M, Capasso A, Ticci C, Mazzanti S, Brolatti N, Tosi M, Dosi C, Antonaci L, Coratti G, Pera MC, Leone D, Palermo C, Berti B, Frongia AL, Sacchini M, Bruno C, Masson R, D'Amico A, Battini R, Pane M, Mercuri E. Buchignani B, et al. Among authors: ticci c. Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613. Arch Dis Child. 2024. PMID: 38290776
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: ticci c. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Pane M, Berti B, Capasso A, Coratti G, Varone A, D'Amico A, Messina S, Masson R, Sansone VA, Donati MA, Agosto C, Bruno C, Ricci F, Pini A, Gagliardi D, Filosto M, Corti S, Leone D, Palermo C, Onesimo R, De Sanctis R, Ricci M, Bitetti I, Sframeli M, Dosi C, Albamonte E, Ticci C, Brolatti N, Bertini E, Finkel R, Mercuri E; ITASMAc group. Pane M, et al. Among authors: ticci c. EClinicalMedicine. 2023 May 5;59:101997. doi: 10.1016/j.eclinm.2023.101997. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37197706 Free PMC article.
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti C, Ticci C, Rubegni A, Doccini S, Scaturro G, Vetro A, Guerrini R, Santorelli FM, Procopio E. Nesti C, et al. Among authors: ticci c. J Neurol. 2023 Jun;270(6):3266-3269. doi: 10.1007/s00415-023-11673-7. Epub 2023 Mar 20. J Neurol. 2023. PMID: 36939934 No abstract available.
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: ticci c. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: ticci c. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. Among authors: ticci c. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E. Pane M, et al. Among authors: ticci c. Eur J Pediatr. 2022 Jul;181(7):2821-2829. doi: 10.1007/s00431-022-04470-3. Epub 2022 May 6. Eur J Pediatr. 2022. PMID: 35522315 Free PMC article.
22 results