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
1993 2
2010 2
2011 3
2012 4
2013 7
2014 5
2015 9
2016 8
2017 5
2018 6
2019 8
2020 11
2021 16
2022 10
2023 10
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

89 results

Results by year

Filters applied: . Clear all
Page 1
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: tonduti d. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Al Wardat S, Frassinelli L, Orecchini E, Rey F, Ciafrè SA, Galardi S, Garau J, Gagliardi S, Orcesi S, Tonduti D, Carelli S, Cereda C, Picardi E, Michienzi A. Al Wardat S, et al. Among authors: tonduti d. Genes Dis. 2023 Jul 13;11(3):101028. doi: 10.1016/j.gendis.2023.05.020. eCollection 2024 May. Genes Dis. 2023. PMID: 38292175 Free PMC article. No abstract available.
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Gavazzi F, Patel V, Charsar B, Glanzman A, Erler J, Sevagamoorthy A, McKenzie E, Kornafel T, Ballance E, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, Van Der Knaap M, Wolf N, Adang L, Vanderver A. Gavazzi F, et al. Among authors: tonduti d. J Child Neurol. 2023 Aug;38(8-9):498-504. doi: 10.1177/08830738231188159. Epub 2023 Jul 17. J Child Neurol. 2023. PMID: 37461315 Free PMC article.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: tonduti d. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Redox Imbalance in Neurological Disorders in Adults and Children.
Rey F, Berardo C, Maghraby E, Mauri A, Messa L, Esposito L, Casili G, Ottolenghi S, Bonaventura E, Cuzzocrea S, Zuccotti G, Tonduti D, Esposito E, Paterniti I, Cereda C, Carelli S. Rey F, et al. Among authors: tonduti d. Antioxidants (Basel). 2023 Apr 20;12(4):965. doi: 10.3390/antiox12040965. Antioxidants (Basel). 2023. PMID: 37107340 Free PMC article. Review.
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.
Vaia Y, Previtali R, Malgesini S, Patanè A, Masnada S, Lodi MAM, Veggiotti P, Tonduti D. Vaia Y, et al. Among authors: tonduti d. Mov Disord Clin Pract. 2023 Feb 18;10(4):701-703. doi: 10.1002/mdc3.13674. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070048 Free PMC article. No abstract available.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
89 results