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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: abeti r. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.
Inhibition of LRRK2 kinase activity stimulates macroautophagy.
Manzoni C, Mamais A, Dihanich S, Abeti R, Soutar MPM, Plun-Favreau H, Giunti P, Tooze SA, Bandopadhyay R, Lewis PA. Manzoni C, et al. Among authors: abeti r. Biochim Biophys Acta. 2013 Dec;1833(12):2900-2910. doi: 10.1016/j.bbamcr.2013.07.020. Epub 2013 Aug 1. Biochim Biophys Acta. 2013. PMID: 23916833 Free PMC article.
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Nethisinghe S, Abeti R, Kesavan M, Wigley WC, Giunti P. Nethisinghe S, et al. Among authors: abeti r. Int J Mol Sci. 2021 Oct 29;22(21):11722. doi: 10.3390/ijms222111722. Int J Mol Sci. 2021. PMID: 34769152 Free PMC article.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P. Nethisinghe S, et al. Among authors: abeti r. Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30532692 Free PMC article.
25 results