Browsing by Author Cauchi, Ruben J.

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Showing results 36 to 47 of 47 < previous 
Issue DateTitleAuthor(s)
2020Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk geneCooper-Knock, Johnathan; Zhang, Sai; Kenna, Kevin P.; Moll, Tobias; Franklin, John P.; Allen, Samantha; Ghahremani Nezhad, Helia; Iacoangeli, Alfredo; Yacovzada, Nancy Y.; Eitan, Chen; Hornstein, Eran; Elhaik, Eran; Celadova, Petra; Bose, Daniel; Farhan, Sali; Fishilevich, Simon; Lancet, Doron; Morrison, Karen E.; Shaw, Christopher E.; Al-Chalabi, Ammar; Veldink, Jan H.; Kirby, Janine; Snyder, Michael P.; Shaw, Pamela J.; Cauchi, Ruben J.; Project MinE ALS Sequencing Consortium
2023Reduced levels of ALS gene DCTN1 induce motor defects in DrosophilaBorg, Rebecca; Herrera, Paul; Purkiss, Angie; Cacciottolo, Rebecca; Cauchi, Ruben J.
2024SCFD1 in amyotrophic lateral sclerosis : reconciling a genetic association with in vivo functional analysisCauchi, Ruben J.
2010SMN and Gemins : 'we are family' … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMNCauchi, Ruben J.
2019SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1Cacciottolo, Rebecca; Ciantar, Joanna; Lanfranco, Maia; Borg, Rebecca M.; Vassallo, Neville; Bordonné, Rémy; Cauchi, Ruben J.
2021SOD1 D91A variant in the southernmost tip of Europeb: a heterozygous ALS patient resident on the island of GozoFarrugia Wismayer, Maia; Farrugia Wismayer, Andrew; Pace, Adrian; Vassallo, Neville; Cauchi, Ruben J.
2017Spinal muscular atrophy : from defective chaperoning of snRNP assembly to neuromuscular dysfunctionLanfranco, Maia; Vassallo, Neville; Cauchi, Ruben J.
2019Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutantAntoine, Marie; Patrick, Kristin L.; Soret, Johann; Duc, Pauline; Rage, Florence; Cacciottolo, Rebecca; Nissen, Kelly E.; Cauchi, Ruben J.; Krogan, Nevan J.; Guthrie, Christine; Gachet, Yannick; Bordonné, Rémy
2020Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipinCamilleri, Angelique; Ghio, Stephanie; Caruana Grech Perry, Mario; Weckbecker, Daniel; Schmidt, Felix; Kamp, Frits; Leonov, Andrei; Ryazanov, Sergey; Griesinger, Christian; Giese, Armin; Cauchi, Ruben J.; Vassallo, Neville
2017-09Tourette syndrome : do reduced histamine levels induce an increase in spontaneous repetitive behaviour?Aquilina, Beppe; Cauchi, Ruben J.
2020Toxic oligomers of the amyloidogenic HypF-N protein form pores in mitochondrial membranesFarrugia, Maria Ylenia; Ghio, Stephanie; Camilleri, Angelique; Farrugia, Claude; Cauchi, Ruben J.; Cappelli, Sara; Chiti, Fabrizio; Vassallo, Neville; Caruana Grech Perry, Mario
2021Value of systematic genetic screening of patients with amyotrophic lateral sclerosisShepheard, Stephanie R.; Parker, Matthew D.; Cooper-Knock, Johnathan; Verber, Nick S.; Tuddenham, Lee; Heath, Paul; Beauchamp, Nick; Place, Elsie; Sollars, Elizabeth S.A.; Turner, Martin R.; Malaspina, Andrea; Fratta, Pietro; Hewamadduma, Channa; Jenkins, Thomas M.; McDermott, Christopher J.; Wang, Dennis; Kirby, Janine; Cauchi, Ruben J.; Project MINE Consortium