Matteo Zanovello
National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Genetic Neurodegenerative Diseases, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A(2022)486 cited
- → Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD(2024)139 cited
- → Increased frequency of repeat expansion mutations across different populations(2024)59 cited
- → PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons(2024)34 cited
- → Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs(2024)29 cited
- → Creation of de novo cryptic splicing for ALS and FTD precision medicine(2024)28 cited
- → Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population(2023)27 cited
- → TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD(2024)25 cited
- → Brainstem glucose hypermetabolism in ALS/FTD and shorten survival: a 18F-FDG PET/MR study(2021)18 cited
- → Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization(2021)18 cited