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 Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1982 1
1987 1
1989 2
1991 2
1995 2
1997 1
1998 1
2008 2
2009 3
2010 6
2011 3
2012 3
2013 3
2014 5
2015 7
2016 5
2017 6
2018 6
2019 10
2020 12
2021 14
2022 2
2023 11
2024 12
2025 7

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

107 results

Results by year

Filters applied: . Clear all
Page 1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: frattini d. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Contrò G, Baroni MC, Caraffi SG, Napoli M, Artuso R, Giliberti A, Bargiacchi S, Mancano G, Traficante G, Mucciolo M, Radio FC, Cordeddu V, Mancini C, Bottillo I, Pirro FA, Bonati MT, Becker CC, Carli D, Mussa A, Gonzalez MIA, Ruiz-Arana IL, Kumps C, Maystadt I, Moortgat S, Peker A, Piccione M, Grammatico P, Rostomashvili N, Lévy J, Scala M, Capra V, Torella A, van Eyk C, Isidor B, Cogne B, Srivastava S, Quinlan A, Vaisfeld A, Licchetta L, Frattini D, Graziano C, Severi G, Bacchi I, Soliani L, Sherr EH, Argilli E, Goel H, De Luca C, Leonardi S, Brancati F, Faletra F, Mio C, Braibanti S, Gargano G, Fusco C, Novelli A, Tartaglia M, Garavelli L. Contrò G, et al. Among authors: frattini d. Clin Genet. 2025 Aug;108(2):146-155. doi: 10.1111/cge.14726. Epub 2025 Feb 19. Clin Genet. 2025. PMID: 39971730 Free PMC article.
Guillain-Barrè Syndrome-Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.
Cavirani B, Baga M, Cesaroni CA, Rizzi S, Spagnoli C, Frattini D, Della Giustina E, Pisani F, Fusco C. Cavirani B, et al. Among authors: frattini d. Medicina (Kaunas). 2024 Sep 12;60(9):1490. doi: 10.3390/medicina60091490. Medicina (Kaunas). 2024. PMID: 39336531 Free PMC article. Review.
IRF2BPL gene variants: One new case.
Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Among authors: frattini d. Am J Med Genet A. 2020 Jan;182(1):255-256. doi: 10.1002/ajmg.a.61401. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729144 No abstract available.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: frattini d. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Scaccini S, Cesaroni CA, Caraffi SG, Rizzi S, Rosato S, Peluso F, Spagnoli C, Cavalli A, Brugnoli C, Scandolo G, Pantani A, Ivanovski I, Garavelli L, Frattini D, Fusco C. Scaccini S, et al. Among authors: frattini d. Neurogenetics. 2025 Feb 24;26(1):32. doi: 10.1007/s10048-025-00815-w. Neurogenetics. 2025. PMID: 39992398
Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up.
Baga M, Spagnoli C, Soliani L, Salerno GG, Rizzi S, Frattini D, Pisani F, Fusco C. Baga M, et al. Among authors: frattini d. Can J Neurol Sci. 2021 Mar;48(2):285-286. doi: 10.1017/cjn.2020.144. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646530 No abstract available.
107 results