Janine Kirby

Janine Kirby

UNVERIFIED PROFILE

Are you Janine Kirby?   Register this Author

Register author
Janine Kirby

Janine Kirby

Publications by authors named "Janine Kirby"

Are you Janine Kirby?   Register this Author

64Publications

2033Reads

7Profile Views

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Neurobiol Aging 2019 01 24;73:229.e5-229.e9. Epub 2018 Aug 24.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.015DOI Listing
January 2019

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity.

Front Neurosci 2017 9;11:731. Epub 2018 Jan 9.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnins.2017.00731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767269PMC
January 2018

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Front Mol Neurosci 2017 9;10:370. Epub 2017 Nov 9.

Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Suna and Inan Kirac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland; Department of Neurology, Beaumont Hospital, Dublin, Republic of Ireland; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom; Biostatistics Department, Harvard School of Public Health, Boston, MA, United States; Department of Biostatistics, IoPPN, King's College London, London, United Kingdom; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, United States; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, United States; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; University of Exeter Medical School, Exeter University, St. Luke's Campus, Magdalen Street, Exeter EX1 2LU, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Hospital San Rafael, Madrid, Spain; Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Department of Biostatistics, IoPPN, King's College London, London, United Kingdom; Biomedical Research Centre for Mental Health, IoPPN, King's College London, London, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium, VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; SURFsara, Amsterdam, Netherlands; Emory University, Atlanta, United States; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Hadassah University Hospital, Jerusalem, Israel; Tel-Aviv Medical Center, Tel-Aviv, Israel; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia; Universidade de São Paulo, Brazil; Universidade de São Paulo, Brazil; Université de Limoges, France; Université François-Rabelais, Tours, France; IRCCS Instituto Auxologico Italiano, Milan, Italy; Universita degli Studi dei Torino, Turin, Italy; Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal; Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal; Hospital Carlos III, Madrid, Spain; Umeå University, Umeå, Sweden; Kantonspittal St. Gallen, St. Gallen, Switzerland; IRCCS Instituto Auxologico Italiano, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnmol.2017.00370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5684183PMC
November 2017

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):593-599. Epub 2016 Sep 1.

a Maurice Wohl Clinical Neuroscience Institute, King's College London, Institute of Psychiatry, Psychology and Neuroscience , London , UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/21678421.2016.1213852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125285PMC
October 2017

Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS).

Neurobiol Aging 2017 07 1;55:123-131. Epub 2017 Apr 1.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2017.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455071PMC
July 2017

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

Neuropathol Appl Neurobiol 2016 06 7;42(4):377-89. Epub 2015 Jul 7.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/nan.12254DOI Listing
June 2016

The genetics of amyotrophic lateral sclerosis: current insights.

Degener Neurol Neuromuscul Dis 2016 13;6:49-64. Epub 2016 May 13.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/DNND.S84956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053097PMC
May 2016

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Neuropathology 2016 Apr 24;36(2):125-34. Epub 2015 Aug 24.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/neup.12240DOI Listing
April 2016

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

Neurobiol Aging 2015 Oct 13;36(10):2908.e17-8. Epub 2015 Jul 13.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.014DOI Listing
October 2015

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Acta Neuropathol 2015 Jul 6;130(1):63-75. Epub 2015 May 6.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield, S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-015-1429-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468790PMC
July 2015

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.

Amyotroph Lateral Scler Frontotemporal Degener 2015 Jun 1;16(3-4):249-51. Epub 2014 Dec 1.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield , UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/21678421.2014.977296DOI Listing
June 2015

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes.

Neurobiol Aging 2015 May 19;36(5):2006.e1-9. Epub 2015 Feb 19.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2015.02.017DOI Listing
May 2015

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

Neurotherapeutics 2015 Apr;12(2):326-39

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield, S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13311-015-0342-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404438PMC
April 2015

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis.

PLoS One 2014 27;9(1):e87508. Epub 2014 Jan 27.

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087508PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3903649PMC
September 2014

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.

Brain 2014 Jul 27;137(Pt 7):2040-51. Epub 2014 May 27.

1 Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065024PMC
July 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Acta Neuropathol 2014 Mar 4;127(3):333-45. Epub 2014 Feb 4.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-014-1251-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925297PMC
March 2014

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics.

Front Cell Neurosci 2013 Dec 17;7:259. Epub 2013 Dec 17.

Sheffield Institute for Translational Neuroscience, University of Sheffield Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2013.00259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865770PMC
December 2013

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.

Neurology 2013 Nov 9;81(19):1719-21. Epub 2013 Oct 9.

From the Sheffield Institute for Translational Neuroscience (SITraN) (J.C.-K., A.H., N.B., J.J.B., J.K., P.J.S.), University of Sheffield; and the School of Biosciences (N.C.-R., N.N., V.L.B.), Cardiff University, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/01.wnl.0000435295.41974.2eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812108PMC
November 2013

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration.

Front Cell Neurosci 2013 Oct 10;7:178. Epub 2013 Oct 10.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2013.00178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794211PMC
October 2013

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

Hum Mol Genet 2013 Sep 15;22(18):3690-704. Epub 2013 May 15.

Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt222DOI Listing
September 2013

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis.

Free Radic Biol Med 2013 Aug 19;61:438-52. Epub 2013 Apr 19.

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.freeradbiomed.2013.04.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684770PMC
August 2013

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

J Neurol Neurosurg Psychiatry 2013 Jan 20;84(1):79-87. Epub 2012 Oct 20.

Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2012-303326
Publisher Site
http://dx.doi.org/10.1136/jnnp-2012-303326DOI Listing
January 2013

Gene expression profiling in human neurodegenerative disease.

Nat Rev Neurol 2012 Sep 14;8(9):518-30. Epub 2012 Aug 14.

Academic Unit of Neurology, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneurol.2012.156DOI Listing
September 2012

Brain iron dysregulation and the risk of ageing white matter lesions.

Neuromolecular Med 2011 Dec 7;13(4):289-99. Epub 2011 Oct 7.

Human Genetics Department, Medical Division, National Research Centre, Dokki, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s12017-011-8161
Web Search
http://link.springer.com/10.1007/s12017-011-8161-y
Publisher Site
http://dx.doi.org/10.1007/s12017-011-8161-yDOI Listing
December 2011

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.

Acta Neuropathol 2011 Dec 22;122(6):657-71. Epub 2011 Nov 22.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00401-011-0913
Web Search
http://link.springer.com/10.1007/s00401-011-0913-0
Publisher Site
http://dx.doi.org/10.1007/s00401-011-0913-0DOI Listing
December 2011

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.

Nat Rev Neurol 2011 Nov;7(11):616-30

Academic Neurology Unit, Sheffield Institute for Translational Neuroscience, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneurol.2011.152DOI Listing
November 2011

Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis.

Brain 2011 Sep;134(Pt 9):2627-41

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, Faculty of Medicine, Dentistry and Health University of Sheffield 385A Glossop Road, Sheffield S10 2HQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awr193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170534PMC
September 2011

HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain.

J Neurogenet 2011 Mar 21;25(1-2):7-14. Epub 2011 Feb 21.

Medical Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/01677063.2011.556206DOI Listing
March 2011

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.

Neurogenetics 2010 May 17;11(2):217-25. Epub 2009 Sep 17.

Department of Neuroscience, Faculty of Medicine, Dentistry and Health, University of Sheffield, Medical School, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-009-0218-9DOI Listing
May 2010

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Arch Neurol 2010 Apr;67(4):455-61

Academic Unit of Neurology, University of Sheffield, Medical School, Beech Hill Road, Sheffield S10 2RX, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2010.52DOI Listing
April 2010

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS.

J Neurochem 2009 Jun 1;109(6):1714-24. Epub 2009 Apr 1.

Academic Neurology Unit, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1471-4159.2009.06080.xDOI Listing
June 2009

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

Neurogenetics 2009 Apr 26;10(2):105-10. Epub 2008 Nov 26.

The Academic Neurology Unit, Section of Neuroscience, Medical School, University of Sheffield, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-008-0163-zDOI Listing
April 2009

Gene expression assays.

Adv Clin Chem 2007 ;44:247-92

Academic Neurology Unit, Section of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield S10 2RX, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0065-2423(07)44008-2DOI Listing
August 2007

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

J Neurosci 2007 Aug;27(34):9201-19

Academic Neurology Unit, Section of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield S10 2RX, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.1470-07.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672214PMC
August 2007

Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.

Brain 2005 Jul 4;128(Pt 7):1686-706. Epub 2005 May 4.

Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Sheffield, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awh503DOI Listing
July 2005

Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease.

Hum Mol Genet 2002 Aug;11(17):2061-75

Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Beech Hill Road, Sheffield S10 2RX, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.17.2061DOI Listing
August 2002