| Year |
Citation |
Score |
| 2024 |
Spence H, Waldron FM, Saleeb RS, Brown AL, Rifai OM, Gilodi M, Read F, Roberts K, Milne G, Wilkinson D, O'Shaughnessy J, Pastore A, Fratta P, Shneider N, Tartaglia GG, et al. RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS. Acta Neuropathologica. 147: 50. PMID 38443601 DOI: 10.1007/s00401-024-02705-1 |
0.345 |
|
| 2024 |
Bryce-Smith S, Brown AL, Mehta PR, Mattedi F, Mikheenko A, Barattucci S, Zanovello M, Dattilo D, Yome M, Hill SE, Qi YA, Wilkins OG, Sun K, Ryadnov E, Wan Y, ... ... Fratta P, et al. TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD. Biorxiv : the Preprint Server For Biology. PMID 38313254 DOI: 10.1101/2024.01.22.576625 |
0.761 |
|
| 2024 |
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, ... ... Fratta P, et al. Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD. Science Translational Medicine. eadg7162. PMID 38277467 DOI: 10.1126/scitranslmed.adg7162 |
0.418 |
|
| 2023 |
Wilkins OG, Chien MZYJ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, ... ... Fratta P, et al. Creation of de novo cryptic splicing for ALS/FTD precision medicine. Biorxiv : the Preprint Server For Biology. PMID 38014203 DOI: 10.1101/2023.11.15.565967 |
0.326 |
|
| 2023 |
Fisher EMC, Greensmith L, Malaspina A, Fratta P, Hanna MG, Schiavo G, Isaacs AM, Orrell RW, Cunningham TJ, Arozena AA. Opinion: more mouse models and more translation needed for ALS. Molecular Neurodegeneration. 18: 30. PMID 37143081 DOI: 10.1186/s13024-023-00619-2 |
0.639 |
|
| 2023 |
Mehta PR, Brown AL, Ward ME, Fratta P. The era of cryptic exons: implications for ALS-FTD. Molecular Neurodegeneration. 18: 16. PMID 36922834 DOI: 10.1186/s13024-023-00608-5 |
0.409 |
|
| 2023 |
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, ... ... Fratta P, et al. Mis-spliced transcripts generate proteins in TDP-43-related ALS/FTD. Biorxiv : the Preprint Server For Biology. PMID 36747793 DOI: 10.1101/2023.01.23.525149 |
0.415 |
|
| 2023 |
Willemse SW, Harley P, van Eijk RPA, Demaegd KC, Zelina P, Pasterkamp RJ, van Damme P, Ingre C, van Rheenen W, Veldink JH, Kiernan MC, Al-Chalabi A, van den Berg LH, Fratta P, van Es MA. in amyotrophic lateral sclerosis: from genetic association to therapeutic target. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 36737245 DOI: 10.1136/jnnp-2022-330504 |
0.374 |
|
| 2022 |
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D, Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes. Nature Neuroscience. PMID 36482247 DOI: 10.1038/s41593-022-01205-3 |
0.769 |
|
| 2022 |
Šušnjar U, Škrabar N, Brown AL, Abbassi Y, Phatnani H, Cortese A, Cereda C, Bugiardini E, Cardani R, Meola G, Ripolone M, Moggio M, Romano M, Secrier M, Fratta P, et al. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology. 5: 314. PMID 35383280 DOI: 10.1038/s42003-022-03253-8 |
0.344 |
|
| 2022 |
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H, ... ... Fratta P, et al. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature. PMID 35197628 DOI: 10.1038/s41586-022-04436-3 |
0.791 |
|
| 2021 |
Hasan R, Humphrey J, Bettencourt C, Newcombe J, Lashley T, Fratta P, Raj T. Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions. Acta Neuropathologica. PMID 34961893 DOI: 10.1007/s00401-021-02399-9 |
0.779 |
|
| 2021 |
Garone MG, Birsa N, Rosito M, Salaris F, Mochi M, de Turris V, Nair RR, Cunningham TJ, Fisher EMC, Morlando M, Fratta P, Rosa A. ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity. Communications Biology. 4: 1025. PMID 34471224 DOI: 10.1038/s42003-021-02538-8 |
0.392 |
|
| 2021 |
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J, Benatar M, Malaspina A. Humoral response to neurofilaments and dipeptide repeats in ALS progression. Annals of Clinical and Translational Neurology. PMID 34318620 DOI: 10.1002/acn3.51428 |
0.651 |
|
| 2021 |
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, ... ... Fratta P, et al. FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation. Science Advances. 7. PMID 34290090 DOI: 10.1126/sciadv.abf8660 |
0.768 |
|
| 2021 |
Bampton A, Gatt A, Humphrey J, Cappelli S, Bhattacharya D, Foti S, Brown AL, Asi Y, Low YH, Foiani M, Raj T, Buratti E, Fratta P, Lashley T. HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing. Acta Neuropathologica. PMID 34274995 DOI: 10.1007/s00401-021-02340-0 |
0.759 |
|
| 2020 |
Jarvis S, Birsa N, Secrier M, Fratta P, Plagnol V. A Comparison of Low Read Depth QuantSeq 3' Sequencing to Total RNA-Seq in FUS Mutant Mice. Frontiers in Genetics. 11: 562445. PMID 33329699 DOI: 10.3389/fgene.2020.562445 |
0.564 |
|
| 2020 |
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus J, Shi J, Heckman M, Spiegel M, Cook C, Song Y, Yue M, Daughrity L, Carlomagno Y, Jansen-West K, ... ... Fratta P, et al. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of Clinical Investigation. PMID 32790644 DOI: 10.1172/Jci139741 |
0.798 |
|
| 2020 |
Bampton A, Gittings LM, Fratta P, Lashley T, Gatt A. The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis. Acta Neuropathologica. PMID 32748079 DOI: 10.1007/s00401-020-02203-0 |
0.41 |
|
| 2020 |
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, ... ... Fratta P, et al. FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Research. PMID 32479602 DOI: 10.1093/Nar/Gkaa410 |
0.808 |
|
| 2020 |
Sleigh JN, Tosolini AP, Gordon D, Devoy A, Fratta P, Fisher EMC, Talbot K, Schiavo G. Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes. Cell Reports. 30: 3655-3662.e2. PMID 32187538 DOI: 10.1016/J.Celrep.2020.02.078 |
0.314 |
|
| 2020 |
Abramzon YA, Fratta P, Traynor BJ, Chia R. The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Frontiers in Neuroscience. 14: 42. PMID 32116499 DOI: 10.3389/Fnins.2020.00042 |
0.325 |
|
| 2019 |
Birsa N, Bentham MP, Fratta P. Cytoplasmic functions of TDP-43 and FUS and their role in ALS. Seminars in Cell & Developmental Biology. PMID 31132467 DOI: 10.1016/J.Semcdb.2019.05.023 |
0.374 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, ... ... Fratta P, et al. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. PMID 31028356 DOI: 10.1038/S41588-019-0422-Y |
0.627 |
|
| 2019 |
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, ... ... Fratta P, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genetics. 51: 649-658. PMID 30926972 DOI: 10.1038/S41588-019-0372-4 |
0.696 |
|
| 2019 |
Moens TG, Niccoli T, Wilson KM, Atilano ML, Birsa N, Gittings LM, Holbling BV, Dyson MC, Thoeng A, Neeves J, Glaria I, Yu L, Bussmann J, Storkebaum E, Pardo M, ... ... Fratta P, et al. C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A. Acta Neuropathologica. PMID 30604225 DOI: 10.1007/s00401-018-1946-4 |
0.659 |
|
| 2018 |
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain : a Journal of Neurology. PMID 30364928 DOI: 10.1093/brain/awy260 |
0.716 |
|
| 2018 |
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, et al. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal. PMID 29764981 DOI: 10.15252/Embj.201798684 |
0.798 |
|
| 2018 |
Fratta P, Isaacs AM. The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 141: 1236-1238. PMID 29701791 DOI: 10.1093/brain/awy091 |
0.666 |
|
| 2018 |
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Fratta P, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027 |
0.364 |
|
| 2017 |
Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, ... ... Fratta P, et al. G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo. Embo Molecular Medicine. PMID 29113975 DOI: 10.15252/Emmm.201707850 |
0.7 |
|
| 2017 |
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, ... ... Fratta P, et al. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain : a Journal of Neurology. PMID 29053787 DOI: 10.1093/Brain/Awx248 |
0.786 |
|
| 2017 |
Humphrey J, Emmett W, Fratta P, Isaacs AM, Plagnol V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion. Bmc Medical Genomics. 10: 38. PMID 28549443 DOI: 10.1186/S12920-017-0274-1 |
0.805 |
|
| 2015 |
Joyce PI, Fratta P, Landman AS, McGoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, et al. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Human Molecular Genetics. PMID 26604141 DOI: 10.1093/Hmg/Ddv471 |
0.524 |
|
| 2015 |
Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R, Sharma N, Sidle K, Clarke J, Fox NC, Rossor MN, Warren JD, Clark CN, ... ... Fratta P, et al. CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Brain : a Journal of Neurology. PMID 26362910 DOI: 10.1093/Brain/Awv223 |
0.549 |
|
| 2015 |
Simone R, Fratta P, Neidle S, Parkinson GN, Isaacs AM. G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome. Febs Letters. 589: 1653-68. PMID 25979174 DOI: 10.1016/J.Febslet.2015.05.003 |
0.614 |
|
| 2015 |
Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet. Neurology. 14: 291-301. PMID 25638642 DOI: 10.1016/S1474-4422(14)70233-9 |
0.704 |
|
| 2015 |
Bunton-Stasyshyn RK, Saccon RA, Fratta P, Fisher EM. SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology: New and Renascent Themes. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 21: 519-29. PMID 25492944 DOI: 10.1177/1073858414561795 |
0.396 |
|
| 2015 |
Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, et al. A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. Human Molecular Genetics. 24: 1883-97. PMID 25468678 DOI: 10.1093/Hmg/Ddu605 |
0.366 |
|
| 2015 |
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, et al. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiology of Aging. 36: 546.e1-7. PMID 25179228 DOI: 10.1016/J.Neurobiolaging.2014.07.037 |
0.646 |
|
| 2014 |
Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, ... ... Fratta P, et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science (New York, N.Y.). 345: 1192-4. PMID 25103406 DOI: 10.1126/Science.1256800 |
0.685 |
|
| 2014 |
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, ... ... Fratta P, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience. 17: 664-6. PMID 24686783 DOI: 10.1038/Nn.3688 |
0.474 |
|
| 2014 |
Ricketts T, McGoldrick P, Fratta P, de Oliveira HM, Kent R, Phatak V, Brandner S, Blanco G, Greensmith L, Acevedo-Arozena A, Fisher EM. A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects. Plos One. 9: e85962. PMID 24465814 DOI: 10.1371/Journal.Pone.0085962 |
0.347 |
|
| 2014 |
Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging. 35: 1491-8. PMID 24462217 DOI: 10.1016/J.Neurobiolaging.2013.12.029 |
0.619 |
|
| 2014 |
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 506-8. PMID 24309268 DOI: 10.1136/Jnnp-2013-306761 |
0.578 |
|
| 2013 |
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathologica. 126: 845-57. PMID 24170096 DOI: 10.1007/S00401-013-1200-Z |
0.69 |
|
| 2013 |
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, et al. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathologica. 126: 401-9. PMID 23818065 DOI: 10.1007/S00401-013-1147-0 |
0.677 |
|
| 2013 |
Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain : a Journal of Neurology. 136: 2342-58. PMID 23687121 DOI: 10.1093/Brain/Awt097 |
0.344 |
|
| 2013 |
Thorne T, Fratta P, Hanna MG, Cortese A, Plagnol V, Fisher EM, Stumpf MP. Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Molecular Biosystems. 9: 1736-42. PMID 23595110 DOI: 10.1039/C3Mb25497F |
0.475 |
|
| 2013 |
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. American Journal of Human Genetics. 92: 345-53. PMID 23434116 DOI: 10.1016/J.Ajhg.2013.01.011 |
0.63 |
|
| 2012 |
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific Reports. 2: 1016. PMID 23264878 DOI: 10.1038/Srep01016 |
0.666 |
|
| 2011 |
Joyce PI, Fratta P, Fisher EM, Acevedo-Arozena A. SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 420-48. PMID 21706386 DOI: 10.1007/S00335-011-9339-1 |
0.423 |
|
| 2010 |
Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B. Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration. Brain : a Journal of Neurology. 133: 1763-71. PMID 20472655 DOI: 10.1093/Brain/Awq111 |
0.319 |
|
| Show low-probability matches. |