Elizabeth M C Fisher

Elizabeth M C Fisher

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Elizabeth M C Fisher

Elizabeth M C Fisher

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Uses for humanised mouse models in precision medicine for neurodegenerative disease.

Mamm Genome 2019 Aug 15;30(7-8):173-191. Epub 2019 Jun 15.

Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, OX11 0RD, UK.

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http://dx.doi.org/10.1007/s00335-019-09807-2DOI Listing
August 2019

Mouse models of neurodegeneration: Know your question, know your mouse.

Sci Transl Med 2019 May;11(493)

Department of Experimental Psychology, University of Oxford, Oxford OX1 3TA, UK.

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http://stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aa
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http://dx.doi.org/10.1126/scitranslmed.aaq1818DOI Listing
May 2019

Humanising the mouse genome piece by piece.

Nat Commun 2019 04 23;10(1):1845. Epub 2019 Apr 23.

Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, OX11 0RD, UK.

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http://dx.doi.org/10.1038/s41467-019-09716-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478830PMC
April 2019

Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.

JAMA Neurol 2019 Feb;76(2):152-160

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2018.3616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439956PMC
February 2019

Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.

Dis Model Mech 2019 01 2;12(1). Epub 2019 Jan 2.

Unidad de Investigación Hospital Universitario de Canarias, Fundación Canaria de Investigación Sanitaria and Instituto de Tecnologías Biomédicas (ITB), La Laguna, 38320 Tenerife, Spain

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.037424
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http://dx.doi.org/10.1242/dmm.037424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361152PMC
January 2019

The integration site of the transgene in the J20 mouse model of Alzheimer's disease.

Wellcome Open Res 2017 10;2:84. Epub 2018 Oct 10.

Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, WC1N 3BG, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.12237.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645710.2PMC
October 2018

Rodent models in Down syndrome research: impact and future opportunities.

Dis Model Mech 2017 10;10(10):1165-1186

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 1 rue Laurent Fries, 67404 Illkirch, France.

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http://dx.doi.org/10.1242/dmm.029728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665454PMC
October 2017

Aging rather than aneuploidy affects monoamine neurotransmitters in brain regions of Down syndrome mouse models.

Neurobiol Dis 2017 Sep 15;105:235-244. Epub 2017 Jun 15.

Department of Neurology and Alzheimer Research Center, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands; Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536154PMC
September 2017

Fully-Automated μMRI Morphometric Phenotyping of the Tc1 Mouse Model of Down Syndrome.

PLoS One 2016;11(9):e0162974. Epub 2016 Sep 22.

Translational Imaging Group, Centre for Medical Image Computing, University College London, 3rd Floor, Wolfson House, 4 Stephenson Way, London NW1 2HE, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033246PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162974PLOS
September 2016

Tc1 mouse model of trisomy-21 dissociates properties of short- and long-term recognition memory.

Neurobiol Learn Mem 2016 Apr 8;130:118-28. Epub 2016 Feb 8.

School of Psychology, Cardiff University, CF10 3AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nlm.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898594PMC
April 2016

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Brain 2016 Feb 11;139(Pt 2):e9. Epub 2015 Sep 11.

1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963427PMC
February 2016

Dissecting Alzheimer disease in Down syndrome using mouse models.

Front Behav Neurosci 2015 13;9:268. Epub 2015 Oct 13.

Department of Neurodegenerative Disease, Institute of Neurology, University College London London, UK ; The LonDownS Consortium London, UK.

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http://journal.frontiersin.org/Article/10.3389/fnbeh.2015.00
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http://dx.doi.org/10.3389/fnbeh.2015.00268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602094PMC
November 2015

SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology: New and Renascent Themes.

Neuroscientist 2015 Oct 9;21(5):519-29. Epub 2014 Dec 9.

Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK

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http://dx.doi.org/10.1177/1073858414561795DOI Listing
October 2015

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Nat Rev Neurosci 2015 Sep 5;16(9):564-74. Epub 2015 Aug 5.

Division of Psychiatry, University College London, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.

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http://dx.doi.org/10.1038/nrn3983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678594PMC
September 2015

Mary Frances Lyon (1925–2014).

Cell 2015 Feb;160(4):577-8

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http://dx.doi.org/10.1016/j.cell.2015.01.039DOI Listing
February 2015

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

PLoS One 2014 21;9(1):e85962. Epub 2014 Jan 21.

MRC Mammalian Genetics Unit, Harwell, Oxfordshire, United Kingdom ; Department of Neurodegenerative Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085962PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897576PMC
October 2014

Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition.

Nat Commun 2013 ;4:2816

1] Institute of Cellular Medicine, The Medical School, Newcastle University, 4th Floor William Leech Building, Framlington Place, Newcastle Upon Tyne NE2 4HH, UK [2] Mammalian Genetics Unit, MRC Harwell, Oxford OX11 0RD, UK [3] Department of Gastroenterology and Hepatology, Imperial College, St Mary's Hospital Campus, Praed Street, London W2 1NY, UK [4].

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http://dx.doi.org/10.1038/ncomms3816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843143PMC
July 2014

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Neurobiol Aging 2014 Jun 30;35(6):1491-8. Epub 2013 Dec 30.

MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988933PMC
June 2014

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Neurology 2014 Jun 9;82(23):2077-84. Epub 2014 May 9.

From the Department of Neurodegenerative Disease (P.F., L.M., T.C., E.M.C.F.), Sobell Department of Motor Neuroscience and Movement Disorders (N.N., L.G.), and MRC Centre for Neuromuscular Disease (P.F., N.N., I.S., A.C., E.M.C.F., L.G., M.G.H.), UCL Institute of Neurology, Queen Square, London; Neurogenetics Unit (S.P.), National Hospital for Neurology and Neurosurgery, Queen Square, London; and Centre for Neuroscience & Trauma (A.M.), Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075620PMC
June 2014

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Neurobiol Aging 2014 Feb 13;35(2):443.e1-3. Epub 2013 Sep 13.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077PMC
February 2014

An unusual presentation for SOD1-ALS: isolated facial diplegia.

Muscle Nerve 2013 Dec;48(6):994-5

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mus.23958DOI Listing
December 2013

Cytoplasmic dynein heavy chain: the servant of many masters.

Trends Neurosci 2013 Nov 10;36(11):641-51. Epub 2013 Sep 10.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London, Queen Square, London WC1N 3BG, UK; Molecular NeuroPathobiology, Cancer Research UK London Research Institute, 44 Lincoln's Inn Fields, London WC2A 3LY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2013.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824068PMC
November 2013

Rodent models of amyotrophic lateral sclerosis.

Biochim Biophys Acta 2013 Sep 21;1832(9):1421-36. Epub 2013 Mar 21.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.bbadis.2013.03.012DOI Listing
September 2013

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Brain 2013 Aug 17;136(Pt 8):2342-58. Epub 2013 May 17.

Department of Neurodegenerative Disease, Institute of Neurology, University College, London WC1N 3BG, UK.

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http://brain.oxfordjournals.org/content/brain/136/8/2342.ful
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awt097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722346PMC
August 2013

FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion.

Neurobiol Aging 2013 May 9;34(5):1516.e17-9. Epub 2012 Oct 9.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580120046
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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.008DOI Listing
May 2013

Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain.

Hum Mol Genet 2013 May 24;22(9):1709-24. Epub 2013 Jan 24.

Department of Pediatrics, Linda Crnic Institute for Down Syndrome, University of Colorado Denver School of Medicine, 12700 E 19th Avenue, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1093/hmg/ddt017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613160PMC
May 2013

Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice.

Proc Natl Acad Sci U S A 2012 Aug 6;109(34):13722-7. Epub 2012 Aug 6.

Medical Research Council (MRC) Prion Unit, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1208917109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427081PMC
August 2012

Mouse models of aneuploidy.

ScientificWorldJournal 2012 3;2012:214078. Epub 2012 Jan 3.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1100/2012/214078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259538PMC
June 2012

Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2012 Jun 13;13(4):341-6. Epub 2012 Mar 13.

The Centre for Genetic Anthropology, University College London Genetics Institute, Research Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.

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http://www.tandfonline.com/doi/full/10.3109/17482968.2012.65
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http://dx.doi.org/10.3109/17482968.2012.654394DOI Listing
June 2012

Genomically humanized mice: technologies and promises.

Nat Rev Genet 2011 Dec 16;13(1):14-20. Epub 2011 Dec 16.

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrg3116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782217PMC
December 2011

Down syndrome: searching for the genetic culprits.

Dis Model Mech 2011 Sep;4(5):586-95

MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London, NW7 1AA, UK.

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http://dx.doi.org/10.1242/dmm.008078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180222PMC
September 2011

Structural correlates of active-staining following magnetic resonance microscopy in the mouse brain.

Neuroimage 2011 Jun 16;56(3):974-83. Epub 2011 Feb 16.

Centre for Advanced Biomedical Imaging, Department of Medicine and Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1016/j.neuroimage.2011.01.082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590453PMC
June 2011

How does the genetic assassin select its neuronal target?

Mamm Genome 2011 Apr 4;22(3-4):139-47. Epub 2011 Mar 4.

Department of Neurodegenerative Disease, University College London, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00335-011-9319-5DOI Listing
April 2011

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse.

Cardiovasc Res 2010 Nov 16;88(2):287-95. Epub 2010 Jun 16.

Division of Developmental Biology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

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http://dx.doi.org/10.1093/cvr/cvq193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952533PMC
November 2010

Generation of a panel of antibodies against proteins encoded on human chromosome 21.

J Negat Results Biomed 2010 Aug 20;9. Epub 2010 Aug 20.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1186/1477-5751-9-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936279PMC
August 2010

Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome.

Blood 2010 Apr 12;115(14):2928-37. Epub 2010 Feb 12.

Division of Immune Cell Biology, Medical Research Council National Institute for Medical Research, London, UK.

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http://dx.doi.org/10.1182/blood-2009-06-227629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854435PMC
April 2010

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

Mov Disord 2010 Apr;25(6):771-3

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/mds.22970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864955PMC
April 2010

Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21.

J Biomed Res 2010 Mar;24(2):87-99

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1016/S1674-8301(10)60016-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596542PMC
March 2010

New approaches for modelling sporadic genetic disease in the mouse.

Dis Model Mech 2009 Sep-Oct;2(9-10):446-53

Department of Neurodegenerative Disease, UCL Institute of Neurology, London WC1N3BG, UK.

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http://dx.doi.org/10.1242/dmm.001644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737055PMC
January 2010

Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.

Mol Cell Proteomics 2009 Apr 10;8(4):585-95. Epub 2008 Nov 10.

Institute of Mass-Spectrometry, School of Medicine, Swansea University, Singleton Park, Swansea SA2 8PP, United Kingdom.

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http://dx.doi.org/10.1074/mcp.M800256-MCP200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667343PMC
April 2009

Down syndrome--recent progress and future prospects.

Hum Mol Genet 2009 Apr;18(R1):R75-83

Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1093/hmg/ddp010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657943PMC
April 2009

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.

Proc Natl Acad Sci U S A 2009 Apr 7;106(16):6706-11. Epub 2009 Apr 7.

Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0810599106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2666615PMC
April 2009

Species-specific transcription in mice carrying human chromosome 21.

Science 2008 Oct 11;322(5900):434-8. Epub 2008 Sep 11.

Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.

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http://dx.doi.org/10.1126/science.1160930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717767PMC
October 2008

Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome.

Learn Mem 2008 Jul 14;15(7):492-500. Epub 2008 Jul 14.

Division of Neurophysiology, National Institute for Medical Research, London NW7 1AA, United Kingdom.

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http://dx.doi.org/10.1101/lm.969608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2505316PMC
July 2008

Cytoplasmic dynein could be key to understanding neurodegeneration.

Genome Biol 2008 28;9(3):214. Epub 2008 Mar 28.

Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1186/gb-2008-9-3-214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2397497PMC
June 2008

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander.

Mamm Genome 2008 May 1;19(5):299-305. Epub 2008 Jul 1.

Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00335-008-9117-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2515551PMC
May 2008

Quiet mutations in inbred strains of mice.

Trends Mol Med 2007 Dec 5;13(12):512-9. Epub 2007 Nov 5.

Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.molmed.2007.10.001DOI Listing
December 2007

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease.

J Cell Biol 2007 Nov;179(3):485-500

Centre for Cancer Biomedicine, University of Oslo and Department of Biochemistry, The Norwegian Radium Hospital, Montebello, N-0310 Oslo, Norway.

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http://dx.doi.org/10.1083/jcb.200702115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2064794PMC
November 2007

New techniques to understand chromosome dosage: mouse models of aneuploidy.

Hum Mol Genet 2006 Oct;15 Spec No 2:R103-9

Division of Immune Cell Biology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.

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http://dx.doi.org/10.1093/hmg/ddl179DOI Listing
October 2006

The origins and uses of mouse outbred stocks.

Nat Genet 2005 Nov;37(11):1181-6

Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://www.nature.com/articles/ng1665
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http://dx.doi.org/10.1038/ng1665DOI Listing
November 2005

Cytoplasmic dynein nomenclature.

J Cell Biol 2005 Nov 31;171(3):411-3. Epub 2005 Oct 31.

Department of Cell Biology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.

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http://dx.doi.org/10.1083/jcb.200508078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2171247PMC
November 2005