| The role of tRNA synthetases in neurological and neuromuscular disorders V Boczonadi, MJ Jennings, R Horvath FEBS letters 592 (5), 703-717, 2018 | 86 | 2018 |
| The integrated stress response contributes to tRNA synthetase–associated peripheral neuropathy EL Spaulding, TJ Hines, P Bais, ALD Tadenev, R Schneider, D Jewett, ... Science 373 (6559), 1156-1161, 2021 | 72 | 2021 |
| AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy A Kagiava, C Karaiskos, J Richter, C Tryfonos, MJ Jennings, ... Gene therapy 28 (10), 659-675, 2021 | 44 | 2021 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 42 | 2020 |
| Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency D Hathazi, H Griffin, MJ Jennings, M Giunta, C Powell, SF Pearce, ... The EMBO journal 39 (23), e105364, 2020 | 37 | 2020 |
| A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice M Stavrou, A Kagiava, SG Choudury, MJ Jennings, LM Wallace, ... The Journal of clinical investigation 132 (13), 2022 | 24 | 2022 |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, L Matalonga, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 22 | 2020 |
| Identification of candidate protein markers in skeletal muscle of laminin-211-deficient CMD type 1A-patients H Kölbel, D Hathazi, M Jennings, R Horvath, A Roos, U Schara Frontiers in Neurology 10, 470, 2019 | 21 | 2019 |
| NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice MJ Jennings, A Kagiava, L Vendredy, EL Spaulding, M Stavrou, ... Brain 145 (11), 3999-4015, 2022 | 18 | 2022 |
| Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 MJ Jennings, D Hathazi, CDL Nguyen, B Munro, U Münchberg, ... Frontiers in Cell and Developmental Biology 9, 710247, 2021 | 16 | 2021 |
| PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease M Juneja, A Azmi, J Baets, A Roos, MJ Jennings, P Saveri, C Pisciotta, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (8), 870-878, 2018 | 13 | 2018 |
| Targeted therapies for hereditary peripheral neuropathies: Systematic review and steps towards a ‘treatabolome’ MJ Jennings, A Lochmüller, A Atalaia, R Horvath Journal of Neuromuscular Diseases 8 (3), 383-400, 2021 | 12 | 2021 |
| Targeted therapies for Leigh syndrome: systematic review and steps towards a ‘Treatabolome’ MY Tiet, Z Lin, F Gao, MJ Jennings, R Horvath Journal of Neuromuscular Diseases 8 (6), 885-897, 2021 | 10 | 2021 |
| Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation B Bansagi, V Phan, MR Baker, J O'Sullivan, MJ Jennings, RG Whittaker, ... Neurology 90 (21), e1842-e1848, 2018 | 5 | 2018 |
| Serum biomarker discovery for Charcot-Marie-Tooth disease MJ Jennings, A Roos, R Horvath Neuromuscular Disorders 28, S21, 2018 | 1 | 2018 |
| Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons O Podmanicky, F Gao, B Munro, MJ Jennings, V Boczonadi, D Hathazi, ... Human Molecular Genetics 33 (5), 435-447, 2024 | | 2024 |
| Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons R Horvath, O Podmanicky, F Gao, B Munro, MJ Jennings, V Boczonadi, ... Oxford University Press (OUP), 2023 | | 2023 |
| Treatabolome DB: linking gene and variants with treatments for rare diseases A Corvó, L Matalonga, C Hernandez-Ferrer, R Thompson, L Carmody, ... Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, 2023 | | 2023 |
| Intellectual Disability Related to De Novo Germline Loss of the Distal End of the P-Arm of Chromosome 17: A Case Report E Pope, M Huertas, A Paul, B Cunningham, M Jennings, R Perry, ... | | 2023 |
| Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility A Atalaia, CH Ferrer, A Corvó, L Matalonga, R Thompson, L Carmody, ... Solve-RD Annual Meeting 2022, 2022 | | 2022 |
Rita HorvathUniversity of CambridgeVerified email at medschl.cam.ac.uk
