Ruben J Cauchi

12PUBLICATIONS
124CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsTe mātai i te reo Māori me te reo Māori (Māori linguistics and languages)
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Publications (12)

|Sep 29, 2026
Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

|Mar 31, 2026
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Paul J Hop, Maarten Kooyman, Brendan J Kenna

|Jul 24, 2023
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1.

Ilenio Servettini, Giuseppe Talani, Alfredo Megaro

|Feb 23, 2022
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.

Paul J Hop, Ramona A J Zwamborn, Eilis Hannon

|Dec 07, 2021
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Wouter van Rheenen, Rick A A van der Spek, Mark K Bakker

|Oct 07, 2021
SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Adrian Pace

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Frequent Collaborators

5 joint publications

Jan H Veldink

4 joint publications

John E Landers

4 joint publications

Wouter van Rheenen

4 joint publications

Karen E Morrison