| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 320 | 2021 |
| Putative role of red wine polyphenols against brain pathology in Alzheimer’s and Parkinson’s disease M Caruana, R Cauchi, N Vassallo Frontiers in nutrition 3, 31, 2016 | 173 | 2016 |
| Interaction of α-synuclein with biomembranes in Parkinson's disease—role of cardiolipin S Ghio, F Kamp, R Cauchi, A Giese, N Vassallo Progress in lipid research 61, 73-82, 2016 | 115 | 2016 |
| SMN and Gemins:‘we are family’… or are we? Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN RJ Cauchi Bioessays 32 (12), 1077-1089, 2010 | 114 | 2010 |
| The fly as a model for neurodegenerative diseases: is it worth the jump? RJ Cauchi, M Van Den Heuvel Neuro-degenerative diseases 3 (6), 338, 2007 | 113 | 2007 |
| Value of systematic genetic screening of patients with amyotrophic lateral sclerosis SR Shepheard, MD Parker, J Cooper-Knock, NS Verber, L Tuddenham, ... Journal of Neurology, Neurosurgery & Psychiatry 92 (5), 510-518, 2021 | 90 | 2021 |
| Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll, JNG Marshall, ... Neuron 110 (6), 992-1008. e11, 2022 | 86 | 2022 |
| Cardiolipin Promotes Pore-Forming Activity of Alpha-Synuclein Oligomers in Mitochondrial Membranes S Ghio, A Camilleri, M Caruana, VC Ruf, F Schmidt, A Leonov, ... ACS chemical neuroscience 10 (8), 3815-3829, 2019 | 81 | 2019 |
| A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila RJ Cauchi, KE Davies, JL Liu PLoS genetics 4 (11), e1000265, 2008 | 64 | 2008 |
| Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264, 2022 | 55 | 2022 |
| Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin A Camilleri, S Ghio, M Caruana, D Weckbecker, F Schmidt, F Kamp, ... Biochimica et Biophysica Acta (BBA)-Biomembranes 1862 (2), 183064, 2020 | 55 | 2020 |
| Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies RJ Cauchi, L Sanchez-Pulido, JL Liu Experimental cell research 316 (14), 2354-2364, 2010 | 45 | 2010 |
| The gemin associates of survival motor neuron are required for motor function in Drosophila R Borg, RJ Cauchi PloS one 8 (12), e83878, 2013 | 37 | 2013 |
| Spinal muscular atrophy: from defective chaperoning of snRNP assembly to neuromuscular dysfunction M Lanfranco, N Vassallo, RJ Cauchi Frontiers in molecular biosciences 4, 41, 2017 | 32 | 2017 |
| Gem depletion: amyotrophic lateral sclerosis and spinal muscular atrophy crossover RJ Cauchi CNS neuroscience & therapeutics 20 (7), 574-581, 2014 | 31 | 2014 |
| Extracts from two ubiquitous Mediterranean plants ameliorate cellular and animal models of neurodegenerative proteinopathies M Briffa, S Ghio, J Neuner, AJ Gauci, R Cacciottolo, C Marchal, ... Neuroscience letters 638, 12-20, 2017 | 30 | 2017 |
| The multiple lives of DEAD-box RNA helicase DP103/DDX20/Gemin3 F Curmi, RJ Cauchi Biochemical Society Transactions 46 (2), 329-341, 2018 | 29 | 2018 |
| SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1 R Cacciottolo, J Ciantar, M Lanfranco, RM Borg, N Vassallo, R Bordonné, ... Scientific reports 9 (1), 18666, 2019 | 27 | 2019 |
| Genetic analysis of ALS cases in the isolated island population of Malta R Borg, M Farrugia Wismayer, K Bonavia, A Farrugia Wismayer, M Vella, ... European Journal of Human Genetics 29 (4), 604-614, 2021 | 26 | 2021 |
| Genetic interactions between the members of the SMN-gemins complex in Drosophila RM Borg, R Bordonne, N Vassallo, RJ Cauchi PloS one 10 (6), e0130974, 2015 | 26 | 2015 |
