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

Results by year

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

Year Number of Results
2006 1
2007 2
2009 1
2011 1
2012 2
2013 6
2014 9
2015 7
2016 6
2017 3
2018 4
2019 9
2020 10
2021 9
2022 16
2023 15
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

87 results

Results by year

Filters applied: . Clear all
Page 1
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Perampanel as only add-on epilepsy treatment in elderly: A subgroup analysis of real-world data from retrospective, multicenter, observational study.
Pascarella A, Gasparini S, Manzo L, Marsico O, Torino C, Abelardo D, Cianci V, Iudice A, Bisulli F, Bonanni P, Caggia E, D'Aniello A, Di Bonaventura C, DiFrancesco JC, Domina E, Dono F, Gambardella A, Marini C, Marrelli A, Matricardi S, Morano A, Paladin F, Renna R, Piccioli M, Striano P, Ascoli M, Ferlazzo E, Aguglia U; PEROC Study Group. Pascarella A, et al. Among authors: matricardi s. J Neurol Sci. 2023 Dec 15;455:122797. doi: 10.1016/j.jns.2023.122797. Epub 2023 Nov 13. J Neurol Sci. 2023. PMID: 37976793 Free article.
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
De Giorgis V, Tagliabue A, Bisulli F, Brambilla I, Camerini A, Cusmai R, Darra F, Dianin A, Domenica E, Lodi MAM, Matricardi S, Messana T, Operto F, Ragona F, Russo E, Varesio C, Volpi L, Zanaboni MP, Pasca L, Veggiotti P. De Giorgis V, et al. Among authors: matricardi s. Front Neurol. 2023 Jul 10;14:1215618. doi: 10.3389/fneur.2023.1215618. eCollection 2023. Front Neurol. 2023. PMID: 37497012 Free PMC article.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: matricardi s. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
87 results