Hannah M Mitchison

Hannah M Mitchison

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Hannah M Mitchison

Hannah M Mitchison

Publications by authors named "Hannah M Mitchison"

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.

Front Genet 2019 11;10:127. Epub 2019 Mar 11.

Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.3389/fgene.2019.00127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421331PMC
March 2019

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.

Ultrastruct Pathol 2017 Nov-Dec;41(6):415-427. Epub 2017 Sep 19.

b Department of Paediatric Respiratory Medicine , Royal Brompton & Harefield NHS Trust , London , UK.

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http://dx.doi.org/10.1080/01913123.2017.1370050DOI Listing
June 2018

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Acta Neuropathol Commun 2017 10 17;5(1):74. Epub 2017 Oct 17.

Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology & Neuroscience, Maurice Wohl Clinical Neuroscience Institute, 5 Cutcombe Road, London, SE5 9RX, UK.

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http://dx.doi.org/10.1186/s40478-017-0476-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645909PMC
October 2017

Motile and non-motile cilia in human pathology: from function to phenotypes.

J Pathol 2017 Jan;241(2):294-309

Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1002/path.4843DOI Listing
January 2017

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).

Hum Mol Genet 2015 Dec 8;24(24):7060-74. Epub 2015 Oct 8.

Genetics and Genomic Medicine Programme and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK,

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http://dx.doi.org/10.1093/hmg/ddv406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654058PMC
December 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

Diagnosis and management of primary ciliary dyskinesia.

Arch Dis Child 2014 Sep 25;99(9):850-6. Epub 2014 Apr 25.

Department of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2013-304831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145427PMC
September 2014

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Biochim Biophys Acta 2013 Nov 26;1832(11):1831-41. Epub 2012 Dec 26.

Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbadis.2012.12.010DOI Listing
November 2013

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.

J Biomol NMR 2011 Apr 3;49(3-4):175-84. Epub 2011 Apr 3.

Department of Biochemistry and the Cambridge Systems Biology Centre, University of Cambridge, 80 Tennis Court Road, Cambridge, CB2 1GA, UK.

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http://link.springer.com/content/pdf/10.1007/s10858-011-9491
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http://link.springer.com/10.1007/s10858-011-9491-7
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http://dx.doi.org/10.1007/s10858-011-9491-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123122PMC
April 2011

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.

Hum Mol Genet 2008 Nov 4;17(21):3332-9. Epub 2008 Aug 4.

Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 645, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1093/hmg/ddn228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722895PMC
November 2008

Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.

Traffic 2008 Nov 4;9(11):1905-14. Epub 2008 Aug 4.

MRC Cell Biology Unit, MRC Laboratory for Molecular Cell Biology and Department of Cell and Developmental Biology, University College London, Gower Street, London WC1E6BT, UK.

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http://dx.doi.org/10.1111/j.1600-0854.2008.00807.xDOI Listing
November 2008

Primary ciliary dyskinesia: current state of the art.

Arch Dis Child 2007 Dec 18;92(12):1136-40. Epub 2007 Jul 18.

Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

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http://dx.doi.org/10.1136/adc.2006.096958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2066071PMC
December 2007

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

J Neurochem 2007 Dec 11;103(6):2177-88. Epub 2007 Sep 11.

Department of Biochemistry, Children's Hospital, University Medical Center Hamburg, Hamburg, Germany.

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http://dx.doi.org/10.1111/j.1471-4159.2007.04920.xDOI Listing
December 2007

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

J Neurosci Res 2006 Oct;84(5):1124-38

Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/jnr.21015DOI Listing
October 2006

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

Biochim Biophys Acta 2006 Oct 10;1762(10):873-89. Epub 2006 Aug 10.

Pediatric Storage Disorders Laboratory, Department of Neuroscience, and Centre for the Cellular Basis of Behaviour, MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, King's College London, London, UK.

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http://dx.doi.org/10.1016/j.bbadis.2006.08.002DOI Listing
October 2006

High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease.

J Biol Chem 2005 Dec 20;280(52):42508-14. Epub 2005 Oct 20.

Department of Biochemistry, Tennis Court Road, University of Cambridge, Cambridge CB2 1GA, United Kingdom.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M507380200
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http://dx.doi.org/10.1074/jbc.M507380200DOI Listing
December 2005

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

Brain Res 2004 Oct;1023(2):231-42

Pediatric Storage Disorders Laboratory, MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, King's College London, London, SE5 8AF, UK.

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http://dx.doi.org/10.1016/j.brainres.2004.07.030DOI Listing
October 2004

CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease.

Brain 2004 Aug 7;127(Pt 8):1748-54. Epub 2004 Jul 7.

Department of Pathology and Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1093/brain/awh195DOI Listing
August 2004

Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.

Brain Pathol 2004 Jan;14(1):86-96

Department of Paediatrics and Child Health, Royal Free and University College Medical School, London, United Kingdom.

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January 2004

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact.

BMC Pulm Med 2003 Nov 27;3. Epub 2003 Nov 27.

Department of Psychology, University College London, Gower Street, London WC1E 6BT, UK.

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http://dx.doi.org/10.1186/1471-2466-3-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC317322PMC
November 2003

Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.

Mol Genet Metab 2003 Jan;78(1):17-30

Center for Functional Genomics, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA.

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January 2003