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Page 1
UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Willemse SW, Harley P, van Eijk RPA, Demaegd KC, Zelina P, Pasterkamp RJ, van Damme P, Ingre C, van Rheenen W, Veldink JH, Kiernan MC, Al-Chalabi A, van den Berg LH, Fratta P, van Es MA. Willemse SW, et al. Among authors: fratta p. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):649-656. doi: 10.1136/jnnp-2022-330504. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737245 Free PMC article. Review.
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.
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
Nair RR, Corrochano S, Gasco S, Tibbit C, Thompson D, Maduro C, Ali Z, Fratta P, Arozena AA, Cunningham TJ, Fisher EMC. Nair RR, et al. Among authors: fratta p. Mamm Genome. 2019 Aug;30(7-8):173-191. doi: 10.1007/s00335-019-09807-2. Epub 2019 Jun 15. Mamm Genome. 2019. PMID: 31203387 Free PMC article. Review.
Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases.
Kanber B, Morrow JM, Klickovic U, Wastling S, Shah S, Fratta P, McDowell AR, Hall MG, Clark CA, Muntoni F, Reilly MM, Hanna MG, Alexander DC, Yousry T, Thornton JS. Kanber B, et al. Among authors: fratta p. Neuroinformatics. 2021 Apr;19(2):379-383. doi: 10.1007/s12021-020-09485-5. Neuroinformatics. 2021. PMID: 32892313 No abstract available.
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.
131 results