Publications by authors named "Deborah Hughes"

33Publications

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 2016

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology 2014 Aug 9;83(7):612-9. Epub 2014 Jul 9.

From the MRC Centre for Neuromuscular Diseases (Y.-T.L., M.L., A.H., M.M.R., H.H.) and Departments of Molecular Neuroscience (Y.-T.L., J.H., A.H., A.P., D.H., M.M.R., H.H.) and Clinical Neuroscience (C.P.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery and UCLH (M.L., J.H., A.H., K.G.S., M.M.R., H.H.), London, UK; Section of Epilepsy (Y.-T.L.), Department of Neurology, Neurological Institute, Taipei Veterans General Hospital; National Yang-Ming University School of Medicine (Y.-T.L.), Taipei, Taiwan; Division of Neuropathology (Z.J., S.B.) and Neurogenetics Unit (J.M.P, M.G.S.), National Hospital for Neurology and Neurosurgery; Department of Neurology (J.C.J.), Chelsea and Westminster Hospital, London, UK; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; and Dr. John T. MacDonald Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL.

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http://www.neurology.org/content/83/7/612.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000069
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http://dx.doi.org/10.1212/WNL.0000000000000691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141994PMC
August 2014

Clinic complexities.

Midwives 2010 Aug:25

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August 2010

Mutation and association analysis of GEN1 in breast cancer susceptibility.

Breast Cancer Res Treat 2010 Nov 30;124(1):283-8. Epub 2010 May 30.

Section of Cancer Genetics, the Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1007/s10549-010-0949-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632835PMC
November 2010

Total body bone measurements: a cross-sectional study in children with acute lymphoblastic leukemia during and following completion of therapy.

Pediatr Blood Cancer 2009 Jan;52(1):33-8

Division of Pediatric Oncology, Columbia University Medical Center, Morgan Stanley Children's Hospital of New York-Presbyterian, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/pbc.21760DOI Listing
January 2009

Massage therapy as a supportive care intervention for children with cancer.

Oncol Nurs Forum 2008 May;35(3):431-42

Division of Pediatric Oncology, Columbia University Medical Center, Morgan Stanley Children's Hospital of New York Presbyterian, New York, USA.

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http://dx.doi.org/10.1188/08.ONF.431-442DOI Listing
May 2008

Association of lung function with atherosclerotic risk factors among Japanese Americans: Seattle Nikkei Health Study.

Clin Exp Pharmacol Physiol 2004 Dec;31 Suppl 2:S31-4

Department of Medicine, University of Washington, Washington, USA.

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http://dx.doi.org/10.1111/j.1440-1681.2004.04116.xDOI Listing
December 2004

Where's the midwifery in midwife-led care?

Pract Midwife 2002 Jul-Aug;5(7):18-9

University of Huddersfield.

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September 2002

A critical ethnographic approach to facilitating cultural shift in midwifery.

Midwifery 2002 Mar;18(1):43-52

Yorkshire Storks, 5, Willow Bank, Haugh Shaw Road, Halifax, HX1 3LE, UK.

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http://dx.doi.org/10.1054/midw.2002.0293DOI Listing
March 2002