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MRC Prion Unit
From fundamental research to prevention and cure

Mammalian Neurogenetics

The Mammalian Neurogenetics Group, led by Professor Elizabeth Fisher, is studying the genetic causes of neuronal dysfunction and degeneration, in two main areas, motor neuron degeneration and Down syndrome.

Investgating genes causing motor neuron degeneration, and the downstream defects in RNA metabolism

Motor neuron diseases are cruel and untreatable killers that can strike at any age. One in every 400 people in UK who die have some form of motor neuron disease. We know that certain genes either cause or contribute to the motor neuron diseases, but, we do not how these genes work, or what most of them are.  In this project, run by Dr Anny Devoy, we are creating new mouse models with the same mutations that cause motor neuron disease (amyotrophic lateral sclerosis, ALS) in humans, specifically in the FUS gene. These models are ‘knock in’ mice and therefore produce the mutant protein at physiological levels.  We work with a range of collaborators who have specialist expertise in the study of nerve and muscle to help us understand the effects of the genes we are interested in. We are doing this to provide new information about the disease, and, ultimately, help with treatments and, eventually, a cure. 

Working with this, and existing models, and with human patient samples, we are also undertaking novel approaches to dissect the alterations in RNA metabolism that may results from mutations in ‘ALS’ genes.  In this project, run by Dr Pietro Fratta who is a key collaborator of ours, working within the Sobel Department of Motor Neuroscience at the UCL Institute of Neurology, we are particularly interested in local translation in different sub-cellular regions of the motor neuron.

Analysing models of Down syndrome to understand dementia and other facets of the disorder

Down syndrome is the single most common genetic form of cognitive disability, and affects many other tissues in addition to the brain. We know that it is caused by having an extra copy of chromosome 21, but we do not know why this has such a profound effect on the individual.  We (Professor Fisher’s group and that of Dr Victor Tybulewicz of the Francis Crick Institute) have created a model of Down syndrome to try to identify which genes cause the various parts of the syndrome and affect different tissues. In a project run by Dr Frances Wiseman, we are particularly interested in the greatly increased propensity to develop Alzheimer disease in Down syndrome, and are undertaking genetic, molecular and cellular approaches to dissect the pathways of neurodegeneration. We work with a large number of collaborators with specialist expertise in heart development, behaviour, electrophysiology (of interest because of the increase of epilepsy in Down syndrome), brain development, to try to understand the interplay of genes and the various features of Down syndrome. By doing this we hope to help with aspects of the syndrome, such as the neurological effects.  We are also a constituent laboratory of the Welcome Trust funded LonDowns consortium.

Creating new mouse models of Neurodegeneration

We are undertaking two further projects in the lab to genome engineer new mouse models of dystonia, with Dr Fei Zhu, and a new mouse model of motor neuron degeneration, with Ms Francesca De Giorgio in collaboration with Dr Anny Devoy and Dr Abraham Acevedo of the University of Tenerife.  We also work closely with the laboratory of Dr Adrian Isaacs including with Dr Carmelo Milioto to create a new model with C9orf72 gene mutations.

2016 publications:

Qiu, J., McQueen, J., Bilican, B., Dando, O., Magnani, D., Punovuori, K., Selvaraj, B.T., Livesey, M., Haghi, G., Heron, S., Burr, K., Patani, R., Rajan, R., Sheppard, O., Kind, P.C., Simpson, I., Tybulewicz, V.L.J., Wyllie, D.J.A., Fisher, E.M.C., Lowell, S., Chandran, S., Hardingham, G.E. (2016) Evolutionary conservation and divergence of the activity-dependent transcriptome. eLife 2016;5:e20337. DOI: 10.7554/eLife.20337

Powell, N.M., Modat, M., Cardoso, M.J., Ma, D., Holmes, H.E., Yu, Y., O'Callaghan, J., Cleary, J.O., Sinclair, B., Wiseman, F.K.,Tybulewicz, V.L.J., Fisher, E.M.C., Lythgoe, M.F., Ourselin, S. (2016) Fully-automated µMRI morphometric phenotyping of the Tc1 model of Down syndrome. PLoS ONE 11(9): e0162974. doi:10.1371/journal. pone.0162974.

Peiris, H., Duffield, M.D., Fadista, J., Jessup, C.F., Kashmir, V., Genders, A.J., McGee, S.L., Martin, A.M., Saeidi, M., Morton, N., Cousin, M.A., Carter, R., Kontos, A.C., Oskolkov, N., Volkov, P., Hough, T.A., Fisher, E.M.C., Tybulewicz, V.L.J., Busciglio, J., Coskun, P.E., Becker, A., Belichenko, P.V., Mobley, W.C., Ryan, M.T., Chan J.Y., Laybutt, D.R., Coates, P.T., Yang, S., Ling, C., Groop, L., Pritchard, M.A., Keating, D.J. (2016) A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-cell mitochondrial dysfunction in Type 2 diabetes PLOS Genetics 12(5): e1006033. doi:10.1371/journal.pgen.1006033  

Hall, J.H., Wiseman, F.K., Fisher, E.M.C., Tybulewicz, V.L.J., Harwood, J.L., Good, M.A. (2016) Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory. Neurobiology of Learning and Memory. 130, 118-128.

Lana-Elola, E., Watson-Scales, S., Slender, A., Gibbins, D., Martineau, A., Douglas, C., Mohun, T., Fisher, E.M.C., Tybulewicz, V.L.J. (2016) Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. eLife 2016;5:e11614. DOI: 10.7554/eLife.11614

Holmes, H.E., Colgan, N., Ismail, O., Ma, D., Powell, N.M., O’Callaghan, J.M., Harrison, I.F., Johnson, R.A., Murray, T.K., Ahmed, Z., Heggenes, M., Fisher, A., Cardoso, J., Modat, M., Walker-Samuel, S., Fisher, E.M.C., Ourselin, S., O’Neill, M.J.,  Wells, J.A., Collins, E.C., Lythgoe, M.F. (2016) Imaging the accumulation and suppression of tau pathology using multi-parametric MRI. Neurobiology of Aging, 39: 184-194 http://dx.doi.org/10.1016/j.neurobiolaging.2015.12.001

Peer reviewed articles:

Dissecting Alzheimer disease in Down syndrome using mouse models
Choong, X.Y., Tosh, J.L., L.J., Fisher, E.M.C.
Front. Behav. Neurosci. 9:268. doi: 10.3389/fnbeh.2015.00268

CHCHD10 Pro34Ser is not a pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Abdelkarim, S., Morgan, S., Plagnol, V., Adamson, G., Lu, C.-H., Howard, R., Malaspina, A., Orrell, R., Sharma, N., Sidle, K., Clarke, J., Hardy, J, Fisher, E., Rohrer, J., Mead, S., Pitman, A., Fratta, P. (2015)  Brain

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nature Reviews NeuroscienceWiseman, F.K., Fisher, E.M.C.*, Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V.L.J, Strydom, A.  (2015) , In Press

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. Wells, J.A., Holmes, H.E., O’Callaghan, J.M., Colgan, N., Ismail, O., Fisher, E.M.C., Siow, B., Murray, T.K., Schwarz, A.J., O’Neill, M.J., Collins, E.C., Lythgoe, M.F. J Cereb Blood Flow Metab.35:359-62. doi: 10.1038/jcbfm.2014.224. 

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity Joyce,P.I., McGoldrick, P., Saccon, R. A., Weber, W., Fratta, P., West, S. J., Zhu, N., Carter, S., Phatak, V., Stewart, M., Simon, M., Kumar, S., Heise, I., Bros-Facer, V., Dick, J., Luong, T., Nolan, P.M., Meyer, T., Brandner, S., Bennett, D.L.H., Ozdinler, P.H.,Greensmith, L., Fisher, E.M.C Hum. Molec. Genet. 24: 1883-1897

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
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, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM.C Neurobiol Aging. 36: 546.e1–546.e7


Correlation of clinical and molecular features in spinal bulbar muscular atrophy
Fratta, P., Nirmalananthan, N., Masset, L., Skorupinska, I., Collins, T., Cortese, A., Pemble, S., Malaspina, A., Fisher, E.M.C., Greensmith, L., Hanna, M. (2014) Neurology 82: 1-8

Widespread RNA metabolism is impaired in sporadic inclusion body myositis TDP43-proteinopathy
Cortese, A., Plagnol, V., Brady, S., Simone, R., Lashley, T., Acevedo-Arozena, A., de Silva, R., Greensmith, L., Holton, J., Hanna, M.G., Fisher, E.M.C., Fratta, P. (2014)  Neurobiol Ageing 35: 1491-1498

Automatic Structural Parcellation of Mouse Brain MRI using Multi-Atlas Label Fusion
Da Ma, Cardoso, M.J., Modat, M., Powell, N., Wells, J., Holmes, H., Wiseman, F., Tybulewicz, V.L.J., Fisher, E.M.C., Lythgoe, M. F., Ourselin, S.O. (2014)  PLOS ONE 9(1): e86576. doi:10.1371/journal.pone.0086576

DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy
Garrett, C.A., Barri, M., Kuta, A., Soura, V., Deng, W., Fisher, E.M.C., Schiavo, G., Hafezparast, M., (2014) 
Brain 137: 1883-1893

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects
Ricketts, T., McGoldrick, P., Fratta, P., Kent, R., Phatak, V., Brandner, S., Greensmith L.,  Acevedo-Arozena, A., FisherE.M.C. (2014)  PLoS ONE 9(1): e85962. doi:10.1371/journal.pone.0085962.

Sequencing analysis of the SBMA CAG expansion reveals absence of repeat interruptions
Fratta, P., Collins, T., Pemble, S., Nethisinghe, S., Devoy, A., Giunti, P., Sweeney, M.G., Hanna, M.G., Fisher, E.M.C. (2014) Neurobiol Ageing. 443.e1-443.e3.


Profilin E117G is a moderate risk factor for amyotrophic lateral sclerosis
Fratta, P., Charnock, J., Collins, T., Devoy, A., Howard, R., Malaspina, A., Orrell, R., Sidle, K., Clarke, J., Shoai, M., Lu, C-H., Hardy, J., Plagnol, V., Fisher, E.M.C. (2013)  J Neurol Neurosurg Psychiatry, 2013 Dec 5.
doi: 10.1136/jnnp-2013-306761

Mutations in the GABRB1 gene promote alcohol consumption through increased tonic inhibition
Anstee, Q.M., Knapp, S., Maguire, E.P., Hosie, A.M., Thomas, P., Mortensen, M., Bhome, R., Martinez, A., Walker, S.E., Dixon, C.I., Ruparelia, K., Montagnese, S., Kuo, Y., Herlihy, A., Bell, J.D., Robinson, I., Guerrini, I., McQuillin, A., Fisher, E.M.C., Ungless M.A., Gurling H.M.D., Morgan, M.Y., Brown, S.D.M., Stephens, D.N., Belelli, D., Lambert, J.J., Smart, T.G., Thomas, H.C. (2013) Nature Communications, 4:2816 | DOI: 10.1038/ncomms3816

An unusual presentation for SOD1-ALS: isolated facial diplegia
Fratta, P., Hanna, M.G., Fisher, E.M.C., Sidle, K. (2013) Muscle and Nerve. 48: 994-995 DOI 10.1002/mus.23958

Alterations to dendritic spine morphology, but not dendrite patterning, of cortical projection neurons in Tc1 and Ts1Rhr mouse models of Down Syndrome.
Haas, M.A., Bell, D., Slender, A., Lana Elola, E., Watson-Scales, S., Fisher, E.M.C., Tybulewicz, V.L.J., Guillemot, F. (2013) PLoS ONE 8(10): e78561. doi:10.1371/journal.pone.0078561; PMC3813676

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta, P., Lashley, T., Rohrer, J.D., Beck, J., Polke, J.M., Poulter, M., Hensman, D., Mizielinska, S., Lai M.-C., Fisher, E.M.C., Revesz, T., Warren, J.D., Collinge, J., Isaacs, A.M., Mead, S. (2013) Acta Neuropathol. 126:401-409 DOI 10.1007/s00401-013-1147-0

Massively parallel sequencing reveals the complex structure of an irradiated human chromosomeon a mouse background in the Tc1 model of Down syndrome
Gribble, S., Wiseman, F.K., Clayton, S., Prigmore, E., Langley, E., Yang, F., Maguire, S., Fu, B., Rajan, D., Sheppard, O., Scott, C., Hauser, H., Stephens, P.J., Stebbings L.A., Ng, B.L., Fitzgerald, T., Quail, M.A., Banerjee, R., Rothkamm, K., Tybulewicz, V.L.J., Fisher, E.M.C., Carter, N.P. (2013)  PLoS ONE (4):e60482.doi:10.1371/journal.pone.0060482; PMC3626651

Graphical modelling of molecular networks underlying sporadic inclusion body myositis
Thorne, T., Fratta, P., Hanna, M.G., Cortese, A., Plagnol, V., Fisher, E.M.C., Stumpf, M.P.H. (2013)  
Molecular Biosystems 9: 1736-1742. DOI: 10.1039/C3MB25497F.

Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain
Ahmed, M.M., Dhanasekaran, A.R., Tong, S., Wiseman, F.K., Fisher, E.M.C., Tybulewicz, V.L.J., Gardiner, K.J. (2013) Hum. Molec. Genet 22: 1709-1724; PMC3613160

FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion.
Fratta, P., Malik, B., Gray, A., La Spada, A., Hanna, M.G., Fisher, E.M.C., Greensmith, L. (2013) 
Neurobiol Aging 34: 1516e17-1516e19. PMID:23062703

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study
Stokholm, J., Teasdale, T.W., Johannsen, P., Nielsen, J.E., Nielsen, T.T., Isaacs, A., Brown, J.M., Gade, A. and the FReJA Consortium (2013) J Neurol. Neurosurg. Psychiatry 84: 170-176

Cytoplasmic dynein heavy chain: the servant of many masters
Schiavo, G., Greensmith, L., Hafezparast, M., Fisher, E.M.C. (2013) Neurosciences 36, 641-651

Rodent models of amyotrophic lateral sclerosis
McGoldrick, P., Joyce, P.I., Fisher, E.M.C., Greensmith, L. (2013) Biochim Biophys Acta 1832: 1421-1436

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
Saccon, R., Bunton-Stasyshyn, R., Fisher, E.M.C.*, Fratta, P. (2013) Brain, 136: 2342-2358 doi:10.1093/brain/awt097 *Corresponding author


Mouse models of aneuploidy
Sheppard, O., Wiseman, FK, Ruparelia A, Tybulewicz VLJ, Fisher, EMC (2012)
The ScientificWorld Journal (Genes and Genomics): ID: 214078 PMID: 22262951; PMC3259538

Genomically humanized mice: technologies and promise
Devoy, A., Bunton-Stasyshyn, R.K.A., Tybulewicz, V.L.J., Smith, A.J.H., Fisher, E.M.C. (2012)
Nat Rev Genet 13: 14-20 PMID:22179716

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Fratta, P., Mizielinska, S., Nicoll, A.J., Zloh, M., Fisher, E.M.C., Parkinson, G., Isaacs, A.M. (2012) 
Sci. Rep. 2, 1016; DOI:10.1038/srep01016.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Nielsen, T.T., Mizielinska, S., Hasholt, L., Isaacs, A.M., Nielsen, J.E. the FReJA Consortium (2012)  J. Gene. Med. 14: 521-529

Over-expression of Hspa13 (Stch) reduces prion disease incubation time in mice
Grizenkova, J., Akhtar, S., Hummerich, H., Tomlinson, A., Asante, E.A., Wenborn, A., Fizet, J., Poulter, M., Wiseman, F.K., Fisher, E.M.C., Tybulewicz, V.L.J., Brandner, S., Colllinge, J., Lloyd, S.E. (2012)  Proc. Natl. Acad. Sci. USA 109: 13722-13727.  PMID:22869728

A motor-driven mechanism for cell-length sensing
Rishal, I., Kam, N., Perry, R. B.-T., Shinder, V., Fisher E.M.C., Schiavo, G., Fainzilber, M. (2012) Cell Reports. 1: 608-616 PMID: 22773964

A novel phenotype for the dynein heavy chain mutation, Loa: Altered dendritic morphology, organelle density, and reduced numbers of trigeminal motoneurons
Wiggins, L.M., Kuta, A., Stevens, J.C., Fisher, E.M.C., von Bartheld, C.S. (2012)  J Comp. Neurol. 520: 2757-2773

Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to Amyotrophic Lateral Sclerosis
Ingram, C.J.E., Weale, M.E., Plaster, C.A., Morrison, K.E., Goodall, E.F., Pall, H.S., Beck, M., Jablonka, S., Sendtner, M., Fisher, E.M.C., Bradman, N., Kasperavičiūtė, D. (2012)   Amyotrophic lateral sclerosis 13: 341-346. PMID 22409358

Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI
Lunau, L., Mourisdsen, K., Rodell, A., Ostergaard, L., Nielsen, J.E., Isaacs, A., Johannsen, P., the FReJA Consortium (2012)  BMJ Open 2: e000368.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori, S., Froud, K.E., Mizielinska, S., Powell, C., Smidak, M., Fernandez de Marcoa, M., O’Malley, C., Farmer, M., Parkinson, N., Fisher, E.M.C., Asante, E., Collinge, J., Brandner, S., Isaacs, A.M. (2012)
Brain, 135:819-832.

Altered regulation of tau phosphorylation in a mouse model of Down syndrome aging
Sheppard, O., Plattner, F., Rubin, A., Slender, A., Linehan, J.M., Brandner, S., Tybulewicz, V.L.J., Fisher, E.M.C., Wiseman, F. (2012) Neurobiology of Ageing 33: 828.e31-828.e44 PMID:21843906; PMC3314962


Altered regulation of tau phosphorylation in a mouse model of down syndrome aging
Sheppard O, Plattner F, Rubin A, Slender A, Linehan JM, Brandner S, Tybulewicz VL, Fisher EM, Wiseman FK. Neurobiol Aging. 2011 Aug 13

A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis
Abraham Acevedo-Arozena1, Bernadett Kalmar2, Shafa Essa, Thomas Ricketts, Peter Joyce, Rosie Kent, Claire Rowe, Andy Parker, Anna Gray, Majid Hafezparast, Julian R. Thorpe, Linda Greensmith and Elizabeth M. C. Fisher Dis Model Mech 2011: vol 4: no 5 686-700

Structural correlates of active-staining following magnetic resonance microscopy in the mouse brain
Jon O. Cleary, Frances K. Wiseman, Francesca C. Norris, Anthony N. Price, ManKin Choy, Victor L.J. Tybulewicz, Roger J. Ordidge, Sebastian Brandner, Elizabeth M.C. Fisher, Mark F. Lythgoe NeuroImage Vol 56, Issue 3, 1 June 2011, Pages 974-983

Behavioural and Other Phenotypes in a Cytoplasmic Dynein Light Intermediate Chain 1 Mutant Mouse
Banks G, Haas M, Line S, Shephard H, AlQatari M, Stewart S, Rishal I, Philpot A, Kalmar B, Kuta A, Groves M, Parkinson N, Acevedo-Arozena A, Brandner S, Bannerman D, Greeensmith L, Hafezparast M, Koltzenburg M, Deacon R, Fainzilber M & Fisher EMC. J. Neuroscience : 6 April 2011 : 31(14) 5483 - 5494

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
Arnaud Duchon, Stéphanie Pothion, Véronique Brault, Andrew J. Sharp, Victor L.J. Tybulewicz, Elizabeth M.C. Fisher, Yann Herault Behavioural Brain Research Vol 217, Issue 2, 1 March 2011, Pages 271-281

Down syndrome - searching for the genetic culprits
Eva Lana-Elola, Sheona D. Watson-Scales, Elizabeth M. C. Fisher, and Victor L. J. Tybulewicz
Dis Model Mech. 2011 September; 4(5): 586–595. 

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments
Peter I. Joyce, Pietro Fratta, Elizabeth M. C. Fisher, Abraham Acevedo-Arozena Mamm Genome (2011) 22:420–448

How does the genetic assassin select its neuronal target?
James C. Stevens, Elizabeth M. C. Fisher and Simon Mead
Mamm Genome : Volume 22, Numbers 3-4, 139-147, March 2011

Generation of a panel of antibodies against proteins encoded on human chromosome 21
Wiseman, F., Sheppard, O., Linehan, J., Brandner, S., Tybulewicz, V.L.J., Fisher, E.M.C

J. Negat. Results Biomed. 9: 7

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome
De Vita, S., Canzonetta, C., Mulligan, C., Delom, F., Groet, J., Baldo, C., Vanes, L., Dagna-Bricarelli, F., Hoischen, A., Veltman, J., Fisher, E.M., Tybulewicz, V.L., Nizetic D. 
Oncogene. 29: 6102-6114

Neurodegeneration mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions
Deng, W., Garrett, C., Dombert, B., Soura, V., Banks, G., Fisher E.M.C., van der Brug, M.P. and Hafezparast, M

J Biol Chem, 10.1074 Oct 2


Mouse Cytoplasmic Dynein Intermediate Chains: Identification of New Isoforms, Alternative Splicing and
Tissue Distribution of Transcripts

Anna Kuta, Wenhan Deng, Ali Morsi El-Kadi, Gareth Banks, Majid Hafezparast, Kevin Pfister, Elizabeth M. C. Fisher
PLoS ONE: 21 Jul 2010 10.1371/journal.pone.0011682

Down syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse
Dunlevy, L., Fisher, E.M.C., Tybulewicz, V.L.J., Mohun, T.  Cardiovasc Res (2010) doi: 10.1093

Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21
Ruparelia, A.,Wiseman, F., Sheppard, O., Tybulewicz, V.L.J., Fisher, E.M.C. 
J Biomed. Res. 2010 24: 87-99

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
Duchon, A., Pothioin, S., Sharp, A.J., Tybulewicz, V.L.J., Fisher, E.M.C., Herault, Y
Behav Brain Res. 2010 Oct 31

Tumour angiogenesis is reduced in the Tc1 mouse model of Down’s syndrome
Louise E. Reynolds,Alan R. Watson,Marianne Baker,Tania A. Jones,Gabriela D’Amico,Stephen D. Robinson,Carine Joffre,Sarah Garrido-Urbani,Juan Carlos Rodriguez-Manzaneque,Estefanía Martino-Echarri,Michel Aurrand-Lions,Denise Sheer,Franca Dagna-Bricarelli,Dean Nizetic,Christopher J. McCabe,Andrew S. Turnell,Stephanie Kermorgant,Beat A. Imhof,Ralf Adams,Elizabeth M. C. Fisher,Victor L. J. Tybulewicz,Ian R. Hart& Kairbaan M. Hodivala-Dilke.
Nature Volume: 465, Pages: 813–817 (10 June 2010)

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spincerevellar ataxia series
Van de Leemput, J., Wavrant-De Vrieze F., Rafferty I., Bras J.M., Giunti P., Fisher E.M.C., Hardy, J., Singleton, A.B., Houlden, H Movement Disorders Vol 25 Issue 6: 2010 April 30

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spincerevellar ataxia series
Van de Leemput, J., Wavrant-De Vrieze F., Rafferty I., Bras J.M., Giunti P., Fisher E.M.C., Hardy, J., Singleton, A.B., Houlden, H Movement Disorders Vol 25 Issue 6: 2010 April 3

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2
Miller, G., Neilan, M,. Chia, R., Gheryani, N., Holt, N., Charbit A., Wells, S., Tucci, V., Lalanne, Z., Denny, P., Fisher, E.M.C., Cheeseman, M., Askew,.G., Dear, N
PLoS ONE. 2010 Feb 09;doi:10.1371.

Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome
Alford, K., Slender, A., Vanes, L., Li, Z., Fisher, E.M.C., Nizetic D., Orkin S.H., Roberts, I., Tybulewicz, V.L.J.  
Blood. 2010 Feb 12;doi:10.1182. 


Down syndrome – recent progress and future prospects.
Wiseman F., Alford K., Tybulewicz V.L.J., Fisher, E.M.C. Hum. Molec. Genet. (2009) 18: R75-R83


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