Elizabeth Fisher - Publications

Affiliations: 
UCL Institute of Neurology, Queen Square, London, England, United Kingdom 

115 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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, ... ... Fisher EM, 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  0.76
2020 Lana-Elola E, Watson-Scales S, Slender A, Gibbins D, Martineau A, Douglas C, Mohun T, Fisher EM, Tybulewicz VL. Correction: Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Elife. 9. PMID 32692312 DOI: 10.7554/eLife.61021  0.32
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, ... ... Fisher EMC, 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  0.84
2020 Cunningham TJ, Fisher E, Fratta P, Gilthorpe JD. DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base. The Crispr Journal. 3: 75-77. PMID 32315228 DOI: 10.1089/crispr.2020.29087.tcu  0.76
2020 Thomas JR, LaCombe J, Long R, Lana-Elola E, Watson-Scales S, Wallace JM, Fisher EMC, Tybulewicz VLJ, Roper RJ. Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome. Bone. 115367. PMID 32305495 DOI: 10.1016/j.bone.2020.115367  0.32
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  0.84
2020 Terenzio M, Di Pizio A, Rishal I, Marvaldi L, Di Matteo P, Kawaguchi R, Coppola G, Schiavo G, Fisher EMC, Fainzilber M. DYNLRB1 is essential for dynein mediated transport and neuronal survival. Neurobiology of Disease. 104816. PMID 32088381 DOI: 10.1016/j.nbd.2020.104816  0.84
2019 Nair RR, Corrochano S, Gasco S, Tibbit C, Thompson D, Maduro C, Ali Z, Fratta P, Arozena AA, Cunningham TJ, Fisher EMC. Uses for humanised mouse models in precision medicine for neurodegenerative disease. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 31203387 DOI: 10.1007/s00335-019-09807-2  0.76
2019 De Giorgio F, Maduro C, Fisher EMC, Acevedo-Arozena A. Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis. Disease Models & Mechanisms. 12. PMID 30626575 DOI: 10.1242/dmm.037424  0.32
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  0.76
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, ... ... Fisher EM, 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  0.84
2018 Watson-Scales S, Kalmar B, Lana-Elola E, Gibbins D, La Russa F, Wiseman F, Williamson M, Saccon R, Slender A, Olerinyova A, Mahmood R, Nye E, Cater H, Wells S, Yu YE, ... ... Fisher EMC, et al. Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. Plos Genetics. 14: e1007383. PMID 29746474 DOI: 10.1371/journal.pgen.1007383  0.84
2017 Naert G, Ferré V, Keller E, Slender A, Gibbins D, Fisher EM, Tybulewicz VL, Maurice T. In vivo and ex vivo analyses of amyloid toxicity in the Tc1 mouse model of Down syndrome. Journal of Psychopharmacology (Oxford, England). 269881117743484. PMID 29215943 DOI: 10.1177/0269881117743484  0.32
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, ... ... Fisher EMC, 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  0.84
2016 Peiris H, Duffield MD, Fadista J, Jessup CF, Kashmir V, Genders AJ, McGee SL, Martin AM, Saiedi M, Morton N, Carter R, Cousin MA, Kokotos AC, Oskolkov N, Volkov P, ... ... Fisher EM, et al. A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes. Plos Genetics. 12: e1006033. PMID 27195491 DOI: 10.1371/journal.pgen.1006033  0.6
2016 Lana-Elola E, Watson-Scales S, Slender A, Gibbins D, Martineau A, Douglas C, Mohun T, Fisher EM, Tybulewicz VLj. Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Elife. 5. PMID 26765563 DOI: 10.7554/eLife.11614  0.32
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, ... ... Fisher EM, et al. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Human Molecular Genetics. PMID 26604141 DOI: 10.1093/hmg/ddv471  0.6
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, ... ... Fisher EM, 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  0.6
2015 Wiseman FK, Al-Janabi T, Hardy J, Karmiloff-Smith A, Nizetic D, Tybulewicz VL, Fisher EM, Strydom A. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nature Reviews. Neuroscience. 16: 564-74. PMID 26243569 DOI: 10.1038/nrn3983  0.6
2015 Wells JA, Holmes HE, O'Callaghan JM, Colgan N, Ismail O, Fisher EM, Siow B, Murray TK, Schwarz AJ, O'Neill MJ, Collins EC, Lythgoe MF. Increased cerebral vascular reactivity in the tau expressing rTg4510 mouse: evidence against the role of tau pathology to impair vascular health in Alzheimer's disease. Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism. 35: 359-62. PMID 25515210 DOI: 10.1038/jcbfm.2014.224  0.6
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  0.76
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, ... ... Fisher EM, 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  0.6
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, ... ... Fisher EM, 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  0.6
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, ... ... Fisher EM, 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  0.6
2014 Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology. 82: 2077-84. PMID 24814851 DOI: 10.1212/WNL.0000000000000507  0.6
2014 Garrett CA, Barri M, Kuta A, Soura V, Deng W, Fisher EM, Schiavo G, Hafezparast M. DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. Brain : a Journal of Neurology. 137: 1883-93. PMID 24755273 DOI: 10.1093/brain/awu097  0.6
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  0.6
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  0.6
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  0.6
2014 Fratta P, Collins T, Pemble S, Nethisinghe S, Devoy A, Giunti P, Sweeney MG, Hanna MG, Fisher EM. Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiology of Aging. 35: 443.e1-3. PMID 24041967 DOI: 10.1016/j.neurobiolaging.2013.07.015  0.6
2013 Anstee QM, Knapp S, Maguire EP, Hosie AM, Thomas P, Mortensen M, Bhome R, Martinez A, Walker SE, Dixon CI, Ruparelia K, Montagnese S, Kuo YT, Herlihy A, Bell JD, ... ... Fisher EM, et al. Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition. Nature Communications. 4: 2816. PMID 24281383 DOI: 10.1038/ncomms3816  0.6
2013 Haas MA, Bell D, Slender A, Lana-Elola E, Watson-Scales S, Fisher EMC, Tybulewicz VLJ, Guillemot F. Alterations to dendritic spine morphology, but not dendrite patterning, of cortical projection neurons in Tc1 and Ts1Rhr mouse models of Down syndrome Plos One. 8. PMID 24205261  0.6
2013 Schiavo G, Greensmith L, Hafezparast M, Fisher EM. Cytoplasmic dynein heavy chain: the servant of many masters. Trends in Neurosciences. 36: 641-51. PMID 24035135 DOI: 10.1016/j.tins.2013.08.001  0.84
2013 Fratta P, Hanna MG, Fisher EM, Sidle K. An unusual presentation for SOD1-ALS: isolated facial diplegia. Muscle & Nerve. 48: 994-5. PMID 23873540 DOI: 10.1002/mus.23958  0.6
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  0.6
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  0.76
2013 Gribble SM, Wiseman FK, Clayton S, Prigmore E, Langley E, Yang F, Maguire S, Fu B, Rajan D, Sheppard O, Scott C, Hauser H, Stephens PJ, Stebbings LA, Ng BL, ... ... Fisher EM, et al. Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome. Plos One. 8: e60482. PMID 23596509 DOI: 10.1371/journal.pone.0060482  0.6
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  0.6
2013 McGoldrick P, Joyce PI, Fisher EM, Greensmith L. Rodent models of amyotrophic lateral sclerosis. Biochimica Et Biophysica Acta. 1832: 1421-36. PMID 23524377 DOI: 10.1016/j.bbadis.2013.03.012  0.6
2013 Fratta P, Malik B, Gray A, La Spada AR, Hanna MG, Fisher EM, Greensmith L. FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiology of Aging. 34: 1516.e17-9. PMID 23062703 DOI: 10.1016/j.neurobiolaging.2012.09.008  0.6
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  0.76
2012 Grizenkova J, Akhtar S, Hummerich H, Tomlinson A, Asante EA, Wenborn A, Fizet J, Poulter M, Wiseman FK, Fisher EM, Tybulewicz VL, Brandner S, Collinge J, Lloyd SE. Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice. Proceedings of the National Academy of Sciences of the United States of America. 109: 13722-7. PMID 22869728 DOI: 10.1073/pnas.1208917109  0.6
2012 Rishal I, Kam N, Perry RB, Shinder V, Fisher EM, Schiavo G, Fainzilber M. A motor-driven mechanism for cell-length sensing. Cell Reports. 1: 608-16. PMID 22773964 DOI: 10.1016/j.celrep.2012.05.013  0.6
2012 Wiggins LM, Kuta A, Stevens JC, Fisher EM, von Bartheld CS. A novel phenotype for the dynein heavy chain mutation Loa: altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons. The Journal of Comparative Neurology. 520: 2757-73. PMID 22684941 DOI: 10.1002/cne.23085  0.6
2012 Ingram CJ, Weale ME, Plaster CA, Morrison KE, Goodall EF, Pall HS, Beck M, Jablonka S, Sendtner M, Fisher EM, Bradman N, KasperavičiÅ«tÄ— D. Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 13: 341-6. PMID 22409358 DOI: 10.3109/17482968.2012.654394  0.6
2012 Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain : a Journal of Neurology. 135: 819-32. PMID 22366797 DOI: 10.1093/brain/aws006  0.6
2012 Sheppard O, Plattner F, Rubin A, Slender A, Linehan JM, Brandner S, Tybulewicz VL, Fisher EM, Wiseman FK. Altered regulation of tau phosphorylation in a mouse model of down syndrome aging. Neurobiology of Aging. 33: 828.e31-44. PMID 21843906 DOI: 10.1016/j.neurobiolaging.2011.06.025  0.6
2012 Kuta A, Hafezparast M, Schiavo G, Fisher EMC. Genetic insights into mammalian cytoplasmic dynein function provided by novel mutations in the mouse Dyneins. 482-503. DOI: 10.1016/B978-0-12-382004-4.10018-4  0.6
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  0.6
2011 Acevedo-Arozena A, Kalmar B, Essa S, Ricketts T, Joyce P, Kent R, Rowe C, Parker A, Gray A, Hafezparast M, Thorpe JR, Greensmith L, Fisher EM. A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis. Disease Models & Mechanisms. 4: 686-700. PMID 21540242 DOI: 10.1242/dmm.007237  0.6
2011 Banks GT, Haas MA, Line S, Shepherd HL, Alqatari M, Stewart S, Rishal I, Philpott A, Kalmar B, Kuta A, Groves M, Parkinson N, Acevedo-Arozena A, Brandner S, Bannerman D, ... ... Fisher EM, et al. Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 5483-94. PMID 21471385 DOI: 10.1523/JNEUROSCI.5244-10.2011  0.6
2011 Stevens JC, Fisher EM, Mead S. How does the genetic assassin select its neuronal target? Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 139-47. PMID 21373885 DOI: 10.1007/s00335-011-9319-5  0.6
2011 Cleary JO, Wiseman FK, Norris FC, Price AN, Choy M, Tybulewicz VL, Ordidge RJ, Brandner S, Fisher EM, Lythgoe MF. Structural correlates of active-staining following magnetic resonance microscopy in the mouse brain. Neuroimage. 56: 974-83. PMID 21310249 DOI: 10.1016/j.neuroimage.2011.01.082  0.6
2011 Duchon A, Pothion S, Brault V, Sharp AJ, Tybulewicz VL, Fisher EM, Herault Y. The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome. Behavioural Brain Research. 217: 271-81. PMID 21047530 DOI: 10.1016/j.bbr.2010.10.023  0.6
2010 Deng W, Garrett C, Dombert B, Soura V, Banks G, Fisher EM, van der Brug MP, Hafezparast M. Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions. The Journal of Biological Chemistry. 285: 39922-34. PMID 20889981 DOI: 10.1074/jbc.M110.178087  0.84
2010 Kuta A, Deng W, Morsi El-Kadi A, Banks GT, Hafezparast M, Pfister KK, Fisher EM. Mouse cytoplasmic dynein intermediate chains: identification of new isoforms, alternative splicing and tissue distribution of transcripts. Plos One. 5: e11682. PMID 20657784 DOI: 10.1371/journal.pone.0011682  0.6
2010 Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S, Rodriguez-Manzaneque JC, Martino-Echarri E, Aurrand-Lions M, Sheer D, Dagna-Bricarelli F, Nizetic D, McCabe CJ, ... ... Fisher EM, et al. Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature. 465: 813-7. PMID 20535211 DOI: 10.1038/nature09106  0.6
2010 Chia R, Tattum MH, Jones S, Collinge J, Fisher EM, Jackson GS. Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis. Plos One. 5: e10627. PMID 20498711 DOI: 10.1371/journal.pone.0010627  0.6
2010 Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, Dickson DW, Rademakers R, ... ... Fisher EM, et al. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathologica. 120: 33-41. PMID 20490813 DOI: 10.1007/s00401-010-0698-6  0.6
2010 van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 771-3. PMID 20437544 DOI: 10.1002/mds.22970  0.6
2010 El-Kadi AM, Bros-Facer V, Deng W, Philpott A, Stoddart E, Banks G, Jackson GS, Fisher EM, Duchen MR, Greensmith L, Moore AL, Hafezparast M. The legs at odd angles (Loa) mutation in cytoplasmic dynein ameliorates mitochondrial function in SOD1G93A mouse model for motor neuron disease. The Journal of Biological Chemistry. 285: 18627-39. PMID 20382740 DOI: 10.1074/jbc.M110.129320  0.6
2010 Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M, Van Broeckhoven C, et al. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Human Molecular Genetics. 19: 2228-38. PMID 20223751 DOI: 10.1093/hmg/ddq100  0.6
2010 Stevens JC, Chia R, Hendriks WT, Bros-Facer V, van Minnen J, Martin JE, Jackson GS, Greensmith L, Schiavo G, Fisher EM. Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS). Plos One. 5: e9541. PMID 20221404 DOI: 10.1371/journal.pone.0009541  0.6
2010 Miller G, Neilan M, Chia R, Gheryani N, Holt N, Charbit A, Wells S, Tucci V, Lalanne Z, Denny P, Fisher EM, Cheeseman M, Askew GN, Dear TN. ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. Plos One. 5: e9137. PMID 20161761 DOI: 10.1371/journal.pone.0009137  0.6
2009 Fisher EMC, Lana-Elola E, Watson SD, Vassiliou G, Tybulewicz VLJ. New approaches for modelling sporadic genetic disease in the mouse Dmm Disease Models and Mechanisms. 2: 446-453. PMID 19726804 DOI: 10.1242/dmm.001644  0.6
2009 Banks GT, Bros-Facer V, Williams HP, Chia R, Achilli F, Bryson JB, Greensmith L, Fisher EM. Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice. Plos One. 4: e6218. PMID 19593442 DOI: 10.1371/journal.pone.0006218  0.84
2009 Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, ... ... Fisher EM, et al. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Disease Models & Mechanisms. 2: 359-73. PMID 19470612 DOI: 10.1242/dmm.002527  0.6
2009 Becker EB, Oliver PL, Glitsch MD, Banks GT, Achilli F, Hardy A, Nolan PM, Fisher EM, Davies KE. A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proceedings of the National Academy of Sciences of the United States of America. 106: 6706-11. PMID 19351902 DOI: 10.1073/pnas.0810599106  0.6
2009 Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, et al. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology. 73: 16-24. PMID 19321847 DOI: 10.1212/WNL.0b013e3181a18674  0.6
2009 Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, KasperaviciÅ«te D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, ... ... Fisher EM, et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. Plos Genetics. 5: e1000373. PMID 19197363 DOI: 10.1371/journal.pgen.1000373  0.6
2009 Galante M, Jani H, Vanes L, Daniel H, Fisher EM, Tybulewicz VL, Bliss TV, Morice E. Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Human Molecular Genetics. 18: 1449-63. PMID 19181682 DOI: 10.1093/hmg/ddp055  0.6
2008 Morice E, Andreae LC, Cooke SF, Vanes L, Fisher EM, Tybulewicz VL, Bliss TV. Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learning & Memory (Cold Spring Harbor, N.Y.). 15: 492-500. PMID 18626093 DOI: 10.1101/lm.969608  0.6
2008 Banks GT, Kuta A, Isaacs AM, Fisher EMC. TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander Mammalian Genome. 19: 299-305. PMID 18592312 DOI: 10.1007/s00335-008-9117-x  0.6
2008 van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Human Molecular Genetics. 17: 313-22. PMID 17956895 DOI: 10.1093/hmg/ddm309  0.6
2007 Filimonenko M, Stuffers S, Raiborg C, Yamamoto A, Malerød L, Fisher EM, Isaacs A, Brech A, Stenmark H, Simonsen A. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. The Journal of Cell Biology. 179: 485-500. PMID 17984323 DOI: 10.1083/jcb.200702115  0.6
2007 Stevens JC, Banks GT, Festing MF, Fisher EM. Quiet mutations in inbred strains of mice. Trends in Molecular Medicine. 13: 512-9. PMID 17981508 DOI: 10.1016/j.molmed.2007.10.001  0.44
2007 van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, ... ... Fisher EM, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. Plos Genetics. 3: e108. PMID 17590087 DOI: 10.1371/journal.pgen.0030108  0.6
2007 Bowen S, Ateh DD, Deinhardt K, Bird MM, Price KM, Baker CS, Robson JC, Swash M, Shamsuddin W, Kawar S, El-Tawil T, Roos J, Hoyle A, Nickols CD, Knowles CH, ... ... Fisher EM, et al. The phagocytic capacity of neurones. The European Journal of Neuroscience. 25: 2947-55. PMID 17561810 DOI: 10.1111/j.1460-9568.2007.05554.x  0.6
2007 Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE, Al-Chalabi A, Pall HS, Goodall EF, Morrison KE, Orrell RW, Beck M, Jablonka S, ... ... Fisher EM, et al. Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 130: 2292-301. PMID 17439985 DOI: 10.1093/brain/awm055  0.6
2006 Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology. 67: 1074-7. PMID 16807408 DOI: 10.1212/01.wnl.0000231510.89311.8b  0.6
2006 Pfister KK, Shah PR, Hummerich H, Russ A, Cotton J, Annuar AA, King SM, Fisher EMC. Genetic analysis of the cytoplasmic dynein subunit families Plos Genetics. 2: e1. PMID 16440056 DOI: 10.1371/journal.pgen.0020001  0.6
2005 Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB. Cytoplasmic dynein nomenclature. The Journal of Cell Biology. 171: 411-3. PMID 16260502 DOI: 10.1083/jcb.200508078  0.6
2005 Chia R, Achilli F, Festing MF, Fisher EM. The origins and uses of mouse outbred stocks. Nature Genetics. 37: 1181-6. PMID 16254564 DOI: 10.1038/ng1665  0.44
2005 O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TV, Henderson DJ, ... ... Fisher EM, et al. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science (New York, N.Y.). 309: 2033-7. PMID 16179473 DOI: 10.1126/science.1114535  0.6
2005 Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, ... ... Fisher EM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genetics. 37: 806-8. PMID 16041373 DOI: 10.1038/ng1609  0.6
2005 Achilli F, Boyle S, Kieran D, Chia R, Hafezparast M, Martin JE, Schiavo G, Greensmith L, Bickmore W, Fisher EM. The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 6: 111-4. PMID 16036435 DOI: 10.1080/14660820510035351  0.84
2005 Kieran D, Hafezparast M, Bohnert S, Dick JR, Martin J, Schiavo G, Fisher EM, Greensmith L. A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. The Journal of Cell Biology. 169: 561-7. PMID 15911875 DOI: 10.1083/jcb.200501085  0.84
2005 Hafezparast M, Brandner S, Linehan J, Martin JE, Collinge J, Fisher EM. Prion disease incubation time is not affected in mice heterozygous for a dynein mutation. Biochemical and Biophysical Research Communications. 326: 18-22. PMID 15567146 DOI: 10.1016/j.bbrc.2004.10.206  0.84
2004 Tsipouri V, Curtin JA, Nolan PM, Vizor L, Parsons CA, Clapham CM, Latham ID, Rooke LJ, Martin JE, Peters J, Hunter AJ, Rogers D, Rastan S, Brown SD, Fisher EM, et al. Three novel pigmentation mutants generated by genome-wide random ENU mutagenesis in the mouse. Comparative and Functional Genomics. 5: 123-7. PMID 18629060 DOI: 10.1002/cfg.382  0.6
2004 Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A, Tsai H, Strivens M, Washbourne R, Thornton C, Greenaway S, Hewitt M, McCormick S, ... ... Fisher EM, et al. Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders. Genetica. 122: 47-9. PMID 15619960 DOI: 10.1007/s10709-004-1930-x  0.6
2004 Lloyd SE, Thompson SR, Beck JA, Linehan JM, Wadsworth JD, Brandner S, Collinge J, Fisher EM. Identification and characterization of a novel mouse prion gene allele. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 383-9. PMID 15170227 DOI: 10.1007/s00335-004-3041-5  0.6
2003 Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, ... Fisher EM, et al. No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 4: 150-7. PMID 13129801 DOI: 10.1080/14660820310011737  0.6
2003 Ahmad-Annuar A, Tabrizi SJ, Fisher EMC. Mouse models as a tool for understanding neurodegenerative diseases Current Opinion in Neurology. 16: 451-458. PMID 12869802 DOI: 10.1097/01.wco.0000084221.82329.29  0.6
2003 Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SD, Gray IC, Murdoch JN. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Current Biology : Cb. 13: 1129-33. PMID 12842012 DOI: 10.1016/S0960-9822(03)00374-9  0.6
2003 Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, ... ... Fisher EM, et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science (New York, N.Y.). 300: 808-12. PMID 12730604 DOI: 10.1126/science.1083129  0.6
2003 Mead S, Stumpf MP, Whitfield J, Beck JA, Poulter M, Campbell T, Uphill JB, Goldstein D, Alpers M, Fisher EM, Collinge J. Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (New York, N.Y.). 300: 640-3. PMID 12690204 DOI: 10.1126/science.1083320  0.6
2002 Hafezparast M, Ahmad-Annuar A, Wood NW, Tabrizi SJ, Fisher EMC. Mouse models for neurological disease Lancet Neurology. 1: 215-224. PMID 12849454 DOI: 10.1016/S1474-4422(02)00100-X  0.6
2002 Lloyd SE, Uphill JB, Targonski PV, Fisher EM, Collinge J. Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics. 4: 77-81. PMID 12481985 DOI: 10.1007/s10048-002-0133-9  0.6
2002 Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, Spillantini MG, Fisher EM, Collinge J, Sorensen SA. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology. 59: 1585-94. PMID 12451202 DOI: 10.1212/01.WNL.0000034763.54161.1F  0.6
2002 Hafezparast M, Ball S, Nicholson SJ, Witherden A, Arac D, Broadway N, Saggerson D, Cooper E, Naase M, Gokhale S, Quant P, Lascelles C, Nickols C, Baker CS, Peters J, ... ... Fisher EM, et al. A new mouse mutant, skijumper. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 13: 359-364. PMID 12152619 DOI: 10.1007/PL00021068  0.84
2002 Witherden AS, Hafezparast M, Nicholson SJ, Ahmad-Annuar A, Bermingham N, Arac D, Rankin J, Iravani M, Ball S, Peters J, Martin JE, Huntley D, Hummerich H, Sergot M, Fisher EM. An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the 'Legs at odd angles' (Loa) mutation. Gene. 283: 71-82. PMID 11867214 DOI: 10.1016/S0378-1119(01)00853-8  0.84
2001 Rogers DC, Peters J, Martin JE, Ball S, Nicholson SJ, Witherden AS, Hafezparast M, Latcham J, Robinson TL, Quilter CA, Fisher EM. SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice. Neuroscience Letters. 306: 89-92. PMID 11403965 DOI: 10.1016/S0304-3940(01)01885-7  0.84
2001 Lloyd SE, Onwuazor ON, Beck JA, Mallinson G, Farrall M, Targonski P, Collinge J, Fisher EM. Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proceedings of the National Academy of Sciences of the United States of America. 98: 6279-83. PMID 11353827 DOI: 10.1073/pnas.101130398  0.6
2000 Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray IC, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, ... ... Fisher EM, et al. A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nature Genetics. 25: 440-3. PMID 10932191 DOI: 10.1038/78140  0.6
2000 Beck JA, Lloyd S, Hafezparast M, Lennon-Pierce M, Eppig JT, Festing MF, Fisher EM. Genealogies of mouse inbred strains. Nature Genetics. 24: 23-5. PMID 10615122 DOI: 10.1038/71641  0.84
1999 Ashworth A, Lloyd S, Brown J, Gydesen S, Sorensen SA, Brun A, Englund E, Humphreys C, Housman D, Badura M, Stanton V, Taylor K, Cameron J, Munroe D, Johansson J, ... ... Fisher EM, et al. Molecular genetic characterisation of frontotemporal dementia on chromosome 3. Dementia and Geriatric Cognitive Disorders. 10: 93-101. PMID 10436350 DOI: 10.1159/000051222  0.6
1999 Cole SE, Wiltshire T, Rue EE, Morrow D, Hieter P, Brahe C, Fisher EM, Katsanis N, Reeves RH. High-resolution comparative physical mapping of mouse chromosome 10 in the region of homology with human chromosome 21. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 229-34. PMID 10051316 DOI: 10.1007/s003359900978  0.6
1998 Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, Butler AC. Molecular mapping of Alzheimer-type dementia in Down's syndrome. Annals of Neurology. 43: 380-3. PMID 9506555 DOI: 10.1002/ana.410430316  0.6
1996 Katsanis N, Fitzgibbon J, Fisher EMC. Paralogy mapping: Identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci Genomics. 35: 101-108. PMID 8661110 DOI: 10.1006/geno.1996.0328  0.6
1996 Hoyle J, Yulug IG, Johnstone K, Scambler PJ, Fisher EM. Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome. Human Genetics. 97: 117-20. PMID 8557251 DOI: 10.1007/BF00218845  0.6
1995 Wang W, Fisher EM, Jia Q, Dunn JM, Porfiri E, Downward J, Egan SE. The Grb2 binding domain of mSos1 is not required for downstream signal transduction. Nature Genetics. 10: 294-300. PMID 7670467 DOI: 10.1038/ng0795-294  0.6
1993 Zinn AR, Page DC, Fisher EM. Turner syndrome: the case of the missing sex chromosome. Trends in Genetics : Tig. 9: 90-3. PMID 8488568 DOI: 10.1016/0168-9525(93)90230-F  0.6
1993 Schmitt K, Vollralh D, Foote S, Fisher EMC, Page DC, Arnheim N. Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes Human Molecular Genetics. 2: 1978. PMID 8281166  0.6
1992 Hamvas RMJ, Zinn A, Keer JT, Fisher EMC, Beer-Romero P, Brown SDM, Page DC. Rps4 maps near the inactivation center on the mouse X chromosome Genomics. 12: 363-367. PMID 1740345 DOI: 10.1016/0888-7543(92)90386-7  0.6
1987 Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown LG. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 51: 1091-104. PMID 3690661 DOI: 10.1016/0092-8674(87)90595-2  0.6
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