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Page 1
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.
Spence H, Waldron FM, Saleeb RS, Brown AL, Rifai OM, Gilodi M, Read F, Roberts K, Milne G, Wilkinson D, O'Shaughnessy J, Pastore A, Fratta P, Shneider N, Tartaglia GG, Zacco E, Horrocks MH, Gregory JM. Spence H, et al. Among authors: fratta p. Acta Neuropathol. 2024 Mar 5;147(1):50. doi: 10.1007/s00401-024-02705-1. Acta Neuropathol. 2024. PMID: 38443601 Free PMC article.
Increased frequency of repeat expansion mutations across different populations.
Ibañez K, Jadhav B, Zanovello M, Gagliardi D, Clarkson C, Facchini S, Garg P, Martin-Trujillo A, Gies SJ, Deforie VG, Dalmia A, Hensman Moss DJ, Vandrovcova J, Rocca C, Moutsianas L, Marini-Bettolo C, Walker H, Turner C, Shoai M, Long JD; EUROSCA network; Fratta P, Langbehn DR, Tabrizi SJ, Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. Among authors: fratta p. medRxiv [Preprint]. 2024 Jul 8:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2024. Update in: Nat Med. 2024 Nov;30(11):3357-3368. doi: 10.1038/s41591-024-03190-5 PMID: 37461547 Free PMC article. Updated. Preprint.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: fratta p. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y. Nat Genet. 2019. PMID: 31028356 Free PMC article.
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
Belin S, Ornaghi F, Shackleford G, Wang J, Scapin C, Lopez-Anido C, Silvestri N, Robertson N, Williamson C, Ishii A, Taveggia C, Svaren J, Bansal R, Schwab MH, Nave K, Fratta P, D'Antonio M, Poitelon Y, Feltri ML, Wrabetz L. Belin S, et al. Among authors: fratta p. Hum Mol Genet. 2019 May 15;28(10):1752. doi: 10.1093/hmg/ddz021. Hum Mol Genet. 2019. PMID: 30668730 Free PMC article. No abstract available.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: fratta p. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
Corrigendum: Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
Belin S, Ornaghi F, Shackleford G, Wang J, Scapin C, Lopez-Anido C, Silvestri N, Robertson N, Williamson C, Ishii A, Taveggia C, Svaren J, Bansal R, Schwab MH, Nave K, Fratta P, D'Antonio M, Poitelon Y, Feltri ML, Wrabetz L. Belin S, et al. Among authors: fratta p. Hum Mol Genet. 2019 Jul 1;28(13):2282. doi: 10.1093/hmg/ddz037. Hum Mol Genet. 2019. PMID: 31220267 Free PMC article. No abstract available.
131 results