| TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ... Nature 603 (7899), 131-137, 2022 | 297 | 2022 |
| Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD S Seddighi, YA Qi, AL Brown, OG Wilkins, C Bereda, C Belair, YJ Zhang, ... Science translational medicine 16 (734), eadg7162, 2024 | 80 | 2024 |
| Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, FCY Lee, ... BioRxiv, 2021.04. 02.438170, 2021 | 30 | 2021 |
| Brain stem glucose hypermetabolism in amyotrophic lateral sclerosis/frontotemporal dementia and shortened survival: an 18F-FDG PET/MRI study M Zanovello, G Sorarù, C Campi, M Anglani, A Spimpolo, S Berti, C Bussè, ... Journal of Nuclear Medicine 63 (5), 777-784, 2022 | 25* | 2022 |
| Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population M Zanovello, K Ibáñez, AL Brown, P Sivakumar, A Bombaci, L Santos, ... Brain 146 (7), 2723-2729, 2023 | 18 | 2023 |
| PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons C Milioto, M Carcolé, A Giblin, R Coneys, O Attrebi, M Ahmed, SS Harris, ... Nature neuroscience 27 (4), 643-655, 2024 | 11 | 2024 |
| Creation of de novo cryptic splicing for ALS and FTD precision medicine OG Wilkins, MZYJ Chien, JJ Wlaschin, S Barattucci, P Harley, F Mattedi, ... Science 386 (6717), 61-69, 2024 | 6 | 2024 |
| Increased frequency of repeat expansion mutations across different populations K Ibañez, B Jadhav, M Zanovello, D Gagliardi, C Clarkson, S Facchini, ... Nature medicine, 1-12, 2024 | 6 | 2024 |
| TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD S Bryce-Smith, AL Brown, PR Mehta, F Mattedi, A Mikheenko, S Barattucci, ... BioRxiv, 2024 | 6 | 2024 |
| Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs MJ Keuss, P Harley, E Ryadnov, RE Jackson, M Zanovello, OG Wilkins, ... BioRxiv, 2024 | 5 | 2024 |
| Population frequency of repeat expansions indicates increased disease prevalence estimates across different populations K Ibañez, B Jadhav, S Facchini, P Garg, M Zanovello, A Martin-Trujillo, ... medRxiv, 2023 | 3 | 2023 |
| ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics Z Li, CA Weller, S Shah, NL Johnson, Y Hao, PB Jarreau, J Roberts, ... Genomics, Proteomics & Bioinformatics, qzae083, 2024 | 2 | 2024 |
| BDNF controls phosphorylation and transcriptional networks governing cytoskeleton organization and axonal regeneration JNS Vargas, AL Brown, K Sun, C Hagemann, B Geary, ... bioRxiv, 2023.11. 06.565775, 2023 | 2 | 2023 |
| Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits C Rocca, D Murphy, C Clarkson, M Zanovello, D Gagliardi, R Kaiyrzhanov, ... Genes 16 (2), 169, 2025 | | 2025 |
| G008 Population analysis of repeat expansions indicates increased frequency of pathogenic alleles across different populations K Ibañez, B Jadhav, M Zanovello, D Gagliardi, C Clarkson, S Facchini, ... Journal of Neurology, Neurosurgery & Psychiatry 95 (Suppl 1), A118-A120, 2024 | | 2024 |
| Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ... Nature, 1-1, 2024 | | 2024 |
| 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands M Pennuto, PF Pradat, G Sorarù, L Greensmith, M Basso, M Bertolotti, ... Neuromuscular Disorders 38, 8-19, 2024 | | 2024 |
| A functional interaction between TDP-43 and USP10 reveals USP10 dysfunction in TDP-43 proteinopathies A Marrero-Gagliardi, J Noda, M Zanovello, JM Brito Armas, A Bampton, ... bioRxiv, 2024.01. 23.576828, 2024 | | 2024 |
| Genetic prevalence and population diversity of repeat expansion disorders K Ibanez, B Jadhav, M Zanovello, S Facchini, AM Trujillo, VG Deforie, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 31-31, 2024 | | 2024 |
| Theme 06-TISSUE BIOMARKERS. A Brown, M Keuss, M Zanovello, O Wilkins, S Hill, A Bampton, A Gatt, ... Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration 22, 2021 | | 2021 |
Pietro FrattaUCL Institute of NeurologyOverená e-mailová adresa na: ucl.ac.uk