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Page 1
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.
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Beck J, et al. Among authors: fratta p. Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434116 Free PMC article.
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Fratta P, et al. Acta Neuropathol. 2013 Sep;126(3):401-9. doi: 10.1007/s00401-013-1147-0. Epub 2013 Jul 2. Acta Neuropathol. 2013. PMID: 23818065 Free PMC article.
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Fratta P, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309268 Free PMC article.
Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.
Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P. Cortese A, et al. Among authors: fratta p. Neurobiol Aging. 2014 Jun;35(6):1491-8. doi: 10.1016/j.neurobiolaging.2013.12.029. Epub 2013 Dec 30. Neurobiol Aging. 2014. PMID: 24462217 Free PMC article.
131 results