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101 results

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Page 1
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Casamassa A, Rotundo G, Ceresoni C, Turco EM, Torrente I, Candido O, Nicita F, Tonduti D, Bertini E, Marano M, Ferrari D, Cereda C, Pennuto M, Vescovi AL, Carelli S, Rosati J. Casamassa A, et al. Among authors: tonduti d. Stem Cell Res. 2024 Aug;78:103468. doi: 10.1016/j.scr.2024.103468. Epub 2024 Jun 6. Stem Cell Res. 2024. PMID: 38852424 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.
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: tonduti d. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
Rare forms of hypomyelination and delayed myelination.
Mura E, Parazzini C, Tonduti D. Mura E, et al. Among authors: tonduti d. Handb Clin Neurol. 2024;204:225-252. doi: 10.1016/B978-0-323-99209-1.00002-8. Handb Clin Neurol. 2024. PMID: 39322381 Review.
Role of epigenetics and alterations in RNA metabolism in leukodystrophies.
Rey F, Esposito L, Maghraby E, Mauri A, Berardo C, Bonaventura E, Tonduti D, Carelli S, Cereda C. Rey F, et al. Among authors: tonduti d. Wiley Interdiscip Rev RNA. 2024 May-Jun;15(3):e1854. doi: 10.1002/wrna.1854. Wiley Interdiscip Rev RNA. 2024. PMID: 38831585 Free article. Review.
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.
101 results