| Issue Date | Title | Author(s) |
| 2024 | SCFD1 in amyotrophic lateral sclerosis : reconciling a genetic association with in vivo functional analysis | Cauchi, Ruben J. |
| 2023 | An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1 | Servettini, Ilenio; Talani, Giuseppe; Megaro, Alfredo; Setzu, Maria Dolores; Biggio, Francesca; Briffa, Michelle; Guglielmi, Luca; Savalli, Nicoletta; Binda, Francesca; Delicata, Francis; Bru–Mercier, Gilles; Vassallo, Neville; Maglione, Vittorio; Cauchi, Ruben J.; Di Pardo, Alba; Colluc, Maria; Imbrici, Paola; Catacuzzeno, Luigi; D’Adamo, Maria Cristina; Olcese, Riccardo; Pessia, Mauro |
| 2023 | Functional characterisation of the ACE2 orthologues in Drosophila provides insights into the neuromuscular complications of COVID-19 | Herrera, Paul; Cauchi, Ruben J. |
| 2023 | Loss of amyotrophic lateral sclerosis risk factor SCFD1 causes motor dysfunction in Drosophila | Borg, Rebecca; Purkiss, Angie; Cacciottolo, Rebecca; Herrera, Paul; Cauchi, Ruben J. |
| 2023 | Reduced levels of ALS gene DCTN1 induce motor defects in Drosophila | Borg, Rebecca; Herrera, Paul; Purkiss, Angie; Cacciottolo, Rebecca; Cauchi, Ruben J. |
| 2023 | Genetic landscape of ALS in Malta based on a quinquennial analysis | Farrugia Wismayer, Maria; Farrugia Wismayer, Andrew; Borg, Rebecca; Abela, André; Chircop, Charmaine; Aquilina, Josanne; Soler, Doriette; Pace, Adrian; Vella, Malcolm; Vassallo, Neville; Cauchi, Ruben J.; Bonavia, Karl |
| 2022 | Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS | Hop, Paul J.; Zwamborn, Ramona A.J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; Rheenen, Wouter van; Vugt, Joke J.F.A. van; Dekker, Annelot M.; Westeneng, Henk-Jan; Tazelaar, Gijs H.P.; Eijk, Kristel R. van; Moisse, Matthieu; Baird, Denis; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E.; Shaw, Pamela J.; Nazli Basak, A.; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Mora Pardina, Jesus S.; Salas, Teresa; Dion, Patrick; Ross, Jay P.; Henderson, Robert D.; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B.; Pamphlett, Roger; Mather, Karen A.; Sachdev, Perminder S.; Furlong, Sarah; Garton, Fleur C.; Henders, Anjali K.; Lin, Tian; Ngo, Shyuan T.; Steyn, Frederik J.; Wallace, Leanne; Williams, Kelly L.; Mitne Neto, Miguel; Cauchi, Ruben J.; Blair, Ian P.; Kiernan, Matthew C.; Drory, Vivian; Povedano, Monica; Carvalho, Mamede de; Pinto, Susana; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; McRae, Allan F.; van Es, Michael A.; Jeroen Pasterkamp, R.; Wray, Naomi R.; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; Berg, Leonard H. van den; Damme, Philip Van; Mill, Jonathan; Veldink, Jan H.; BIOS Consortium; Brain MEND Consortium |
| 2022 | Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis | Zhang, Sai; Cooper-Knock, Johnathan; Weimer, Annika K.; Shi, Minyi; Moll, Tobias; Marshall, Jack N.G.; Harvey, Calum; Ghahremani Nezhad, Helia; Franklin, John; Santos Souza, Cleide dos; Ning, Ke; Wang, Cheng; Li, Jingjing; Dilliott, Allison A.; Farhan, Sali; Elhaik, Eran; Pasniceanu, Iris; Livesey, Matthew R.; Eitan, Chen; Hornstein, Eran; Kenna, Kevin P.; Veldink, Jan H.; Ferraiuolo, Laura; Shaw, Pamela J.; Snyder, Michael P.; Cauchi, Ruben J.; Project MinE ALS Sequencing Consortium |
| 2022 | Disruption of survival motor neuron in glia impacts survival but has no effect on neuromuscular function in drosophila | Farrugia, Marija; Vassallo, Neville; Cauchi, Ruben J. |
| 2021 | ACE and ACE2 : insights from Drosophila and implications for COVID-19 | Herrera, Paul; Cauchi, Ruben J. |
| 2021 | SOD1 D91A variant in the southernmost tip of Europeb: a heterozygous ALS patient resident on the island of Gozo | Farrugia Wismayer, Maia; Farrugia Wismayer, Andrew; Pace, Adrian; Vassallo, Neville; Cauchi, Ruben J. |
| 2021 | Extract from the marine seaweed Padina pavonica protects mitochondrial biomembranes from damage by amyloidogenic peptides | Caruana Grech Perry, Mario; Camilleri, Angelique; Farrugia, Maria Ylenia; Ghio, Stephanie; Jakubíčková, Michaela; Cauchi, Ruben J.; Vassallo, Neville |
| 2021 | Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology | Rheenen, Wouter van; Spek, Rick A.A. van der; Bakker, Mark K.; Vugt, Joke J.F.A. van; Hop, Paul J.; Zwamborn, Ramona A. J.; Klein, Niek de; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H.P.; Eijk, Kristel R. van; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Başak, Nazli; Kooi, Anneke J. van der; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D’Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc’h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-García, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A.M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M.; Amouyel, Philippe; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; Deerlin, Vivianna M. van; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Jörk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Hübner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Ravnik-Glavač, Metka; Glavač, Damjan; Stević, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; Carvalho, Mamede de; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown Jr., Robert H.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J.N.; Es, Michael A. van; Jeroen Pasterkamp, R.; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Damme, Philip Van; Berg, Leonard H. van den; Veldink, Jan H.; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium |
| 2021 | Value of systematic genetic screening of patients with amyotrophic lateral sclerosis | Shepheard, 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 |
| 2021 | Genetic analysis of ALS cases in the isolated island population of Malta | Borg, Rebecca M.; Farrugia Wismayer, Maia; Bonavia, Karl; Farrugia Wismayer, Andrew; Vella, Malcolm; Vugt, Joke J.F.A. van; Kenna, Brendan J.; Kenna, Kevin P.; Vassallo, Neville; Veldink, Jan H.; Cauchi, Ruben J. |
| 2021 | Occupation and amyotrophic lateral sclerosis risk : a case-control study in the isolated island population of Malta | Farrugia Wismayer, Maia; Borg, Rebecca M.; Farrugia Wismayer, Andrew; Bonavia, Karl; Vella, Malcolm; Pace, Adrian; Vassallo, Neville; Cauchi, Ruben J. |
| 2020 | Toxic oligomers of the amyloidogenic HypF-N protein form pores in mitochondrial membranes | Farrugia, Maria Ylenia; Ghio, Stephanie; Camilleri, Angelique; Farrugia, Claude; Cauchi, Ruben J.; Cappelli, Sara; Chiti, Fabrizio; Vassallo, Neville; Caruana Grech Perry, Mario |
| 2020 | Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin | Camilleri, 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 |
| 2020 | Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene | Cooper-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 |
| 2019 | SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1 | Cacciottolo, Rebecca; Ciantar, Joanna; Lanfranco, Maia; Borg, Rebecca M.; Vassallo, Neville; Bordonné, Rémy; Cauchi, Ruben J. |
| 2019 | Cardiolipin promotes pore-forming activity of alpha-synuclein oligomers in mitochondrial membranes | Ghio, Stephanie; Camilleri, Angelique; Caruana Grech Perry, Mario; Ruf, Viktoria C.; Schmidt, Felix; Leonov, Andrei; Ryazanov, Sergey; Griesinger, Christian; Cauchi, Ruben J.; Kamp, Frits; Giese, Armin; Vassallo, Neville |
| 2019 | Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutant | Antoine, 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 |
| 2018 | The multiple lives of DEAD-box RNA helicase DP103/DDX20/Gemin3 | Curmi, Frank; Cauchi, Ruben J. |
| 2018 | Modelling motor neuron disease in fruit flies : lessons from spinal muscular atrophy | Aquilina, Beppe; Cauchi, Ruben J. |
| 2018 | Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte | Aquilina, Beppe; Cauchi, Ruben J. |
| 2017-09 | Tourette syndrome : do reduced histamine levels induce an increase in spontaneous repetitive behaviour? | Aquilina, Beppe; Cauchi, Ruben J. |
| 2017 | Spinal muscular atrophy : from defective chaperoning of snRNP assembly to neuromuscular dysfunction | Lanfranco, Maia; Vassallo, Neville; Cauchi, Ruben J. |
| 2017 | Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation | Lanfranco, Maia; Cacciottolo, Rebecca; Borg, Rebecca M.; Vassallo, Neville; Juge, François; Bordonné, Rémy; Cauchi, Ruben J. |
| 2016 | Extracts from two ubiquitous Mediterranean plants ameliorate cellular and animal models of neurodegenerative proteinopathies | Briffa, Michelle; Ghio, Stephanie; Neuner, Johanna; Gauci, Alison J.; Cacciottolo, Rebecca; Marchal, Christelle; Cullin, Christophe; Vassallo, Neville; Cauchi, Ruben J.; Caruana Grech Perry, Mario |
| 2016 | Putative role of red wine polyphenols against brain pathology in Alzheimer’s and Parkinson’s disease | Caruana Grech Perry, Mario; Cauchi, Ruben J.; Vassallo, Neville |
| 2016 | Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy | Borg, Rebecca M.; Fenech Salerno, Benji; Vassallo, Neville; Bordonne, Rémy; Cauchi, Ruben J. |
| 2015 | Interaction of α-synuclein with biomembranes in Parkinson's disease - role of cardiolipin | Ghio, Stephanie; Kamp, Frits; Cauchi, Ruben J.; Giese, Armin; Vassallo, Neville |
| 2015 | Genetic interactions between the members of the SMN-Gemins complex in drosophila | Borg, Rebecca M.; Bordonne, Rémy; Vassallo, Neville; Cauchi, Ruben J. |
| 2014 | A fruitful fly forward : the role of the fly in drug discovery for neurodegeneration | Briffa, Michelle; Vassallo, Neville; Cauchi, Ruben J. |
| 2014 | GEMINs : potential therapeutic targets for spinal muscular atrophy? | Borg, Rebecca M.; Cauchi, Ruben J. |
| 2014 | Gem depletion : amyotrophic lateral sclerosis and spinal muscular atrophy crossover | Cauchi, Ruben J. |
| 2013 | The Gemin associates of survival motor neuron are required for motor function in drosophila | Borg, Rebecca M.; Cauchi, Ruben J. |
| 2012 | Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis | Cauchi, Ruben J. |
| 2012 | Genetic animal models of Tourette syndrome : the long and winding road from lab to clinic | Cauchi, Ruben J.; Tárnok, Zsanett |
| 2011 | Gem formation upon constitutive Gemin3 overexpression in Drosophila | Cauchi, Ruben J. |
| 2010 | Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies | Cauchi, Ruben J.; Sanchez-Pulido, Luis; Liu, Ji-Long |
| 2010 | SMN and Gemins : 'we are family' … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN | Cauchi, Ruben J. |
| 2008 | Genome-wide expression analysis of a spinal muscular atrophy model : towards discovery of new drug targets | Lee, Sheena; Sayin, Arzu; Cauchi, Ruben J.; Grice, Stuart; Burdett, Howard; Baban, Dilair; van den Heuvel, Marcel |
| 2008 | A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila | Cauchi, Ruben J.; Davies, Kay E.; Liu, Ji-Long |
| 2006 | The fly as a model for neurodegenerative diseases : is it worth the jump? | Cauchi, Ruben J.; van den Heuvel, Marcel |
