David Hilton-Jones

David Hilton-Jones

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David Hilton-Jones

David Hilton-Jones

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Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Neurology 2019 Aug 29;93(9):e889-e894. Epub 2019 Jul 29.

From Ghent University Hospital (P.A.O., B.D.P., R.C., J.L.D.B.), Belgium; Academic Medical Centre (E.A., F.B., M.d.V.), University of Amsterdam, the Netherlands; Harvard Medical School (A.A.), Boston, MA; CHU Henri Mondor (D.D.), Créteil, France; Hospital Santa Creu i Sant Pau (E.G.), Barcelona, Spain; Université Paris Est-Créteil (R.G.), France; Charité-Universitätsmedizin Berlin (H.-H.G., W.S.), Germany; John Radcliffe Hospital (D.H.-J.); Oxford University Hospitals (M.H.); UCL Institute of Neurology (J.H.), London, UK; Syddansk Universitet (H.d.S.), Odense, Denmark; and Mayo Clinic (D.S.), Rochester, MN.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000008005DOI Listing
August 2019

Statin-related myopathies.

Pract Neurol 2018 Apr 1;18(2):97-105. Epub 2018 Mar 1.

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http://dx.doi.org/10.1136/practneurol-2017-001738DOI Listing
April 2018

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.

Pract Neurol 2018 Feb 6;18(1):52-56. Epub 2017 Dec 6.

Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/practneurol-2017-001711DOI Listing
February 2018

Thymus imaging in myasthenia gravis: The relevance in clinical practice.

Muscle Nerve 2018 Feb 9. Epub 2018 Feb 9.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University Hospitals, Headley Way Headington, Oxford, OX3 9DU, United Kingdom.

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http://doi.wiley.com/10.1002/mus.26096
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http://dx.doi.org/10.1002/mus.26096DOI Listing
February 2018

The Association of British Neurologists' myasthenia gravis guidelines.

Ann N Y Acad Sci 2018 01 9;1412(1):166-169. Epub 2017 Nov 9.

Department of Neurology, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1111/nyas.13503DOI Listing
January 2018

IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG.

Neurol Neuroimmunol Neuroinflamm 2017 Jul 5;4(4):e357. Epub 2017 Jun 5.

Nuffield Department of Clinical Neurosciences (S.H., P.W., M.W., M.I.L., L.J., J.C., D.H.-J., A.V.), University of Oxford, UK; Department of Clinical and Experimental Medicine (A.D.R., M.M., R.R.), Neurology Unit, Pisa, Italy; Division of Neurology (J.M.H.), University of Cape Town, South Africa; Oslo University Hospital (A.M.), Norway; and Department of Neuroscience (A.E.), Catholic University, Rome, Italy.

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http://dx.doi.org/10.1212/NXI.0000000000000357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459793PMC
July 2017

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

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

J Neurol 2016 Jul 9;263(7):1401-8. Epub 2016 May 9.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-016-8132-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929161PMC
July 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016

A protocol to develop clinical guidelines for inclusion-body myositis.

Muscle Nerve 2016 Apr 22;53(4):503-7. Epub 2016 Feb 22.

Department of Neurology, King's College Hospital NHS Foundation Trust, Denmark Hill, London, SE5 9RS, UK.

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http://dx.doi.org/10.1002/mus.25036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067551PMC
April 2016

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

J Neurol 2015 Aug 2;262(8):1899-908. Epub 2015 Jun 2.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s00415-015-7778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539360PMC
August 2015

Myasthenia gravis: Association of British Neurologists' management guidelines.

Pract Neurol 2015 Jun;15(3):199-206

Department of Neurology, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/practneurol-2015-001126DOI Listing
June 2015

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

Acta Neuropathol 2015 May 13;129(5):611-24. Epub 2015 Jan 13.

Département de Médecine Interne et Immunologie Clinique, Assistance Publique-Hôpitaux de Paris, GH Pitié-Salpêtrière, Université Pierre et Marie Curie, Inserm, U974, DHU I2B, Paris, France,

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http://dx.doi.org/10.1007/s00401-015-1384-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405277PMC
May 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

J Neurol Sci 2015 Apr 6;351(1-2):120-123. Epub 2015 Mar 6.

Department of Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X150013
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http://dx.doi.org/10.1016/j.jns.2015.03.001DOI Listing
April 2015

Myositis mimics: how to recognize them.

Curr Opin Rheumatol 2014 Nov;26(6):663-70

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1097/BOR.0000000000000101DOI Listing
November 2014

Myotonic dystrophy: diagnosis, management and new therapies.

Curr Opin Neurol 2014 Oct;27(5):599-606

aMRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London bOxford Neuromuscular Centre, West Wing, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1097/WCO.0000000000000128DOI Listing
October 2014

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

J Neurol Neurosurg Psychiatry 2014 May 11;85(5):538-43. Epub 2013 Jun 11.

Department of Neurology, Ruskin Wing, King's College Hospital, Denmark Hill, , London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-305572DOI Listing
May 2014

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

BMJ Open 2014 Apr 28;4(4):e004552. Epub 2014 Apr 28.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/bmjopen-2013-004552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010816PMC
April 2014

Clinical assessment determines the diagnosis of inclusion body myositis independently of pathological features.

J Neurol Neurosurg Psychiatry 2013 Nov 16;84(11):1240-6. Epub 2013 Jul 16.

Nuffield Department of Clinical Neurosciences, Oxford University Hospitals, , Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2013-305690DOI Listing
November 2013

Preface.

Handb Clin Neurol 2007 ;86:IX

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http://linkinghub.elsevier.com/retrieve/pii/S007297520786022
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http://dx.doi.org/10.1016/S0072-9752(07)86022-2DOI Listing
October 2012

Miscellaneous myopathies.

Handb Clin Neurol 2007 ;86:397-409

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http://dx.doi.org/10.1016/S0072-9752(07)86020-9DOI Listing
October 2012

Physical training for McArdle disease.

Cochrane Database Syst Rev 2011 Dec 7(12):CD007931. Epub 2011 Dec 7.

MRC Centre for Neuromuscular Diseases and Dubowitz Neuromuscular Centre, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery and Great Ormond Street, PO Box 114, London, UK, WC1B 3BN.

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http://doi.wiley.com/10.1002/14651858.CD007931.pub2
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http://dx.doi.org/10.1002/14651858.CD007931.pub2DOI Listing
December 2011

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.

Neuromuscul Disord 2011 Nov 13;21(11):809-11. Epub 2011 Jul 13.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966110017
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http://dx.doi.org/10.1016/j.nmd.2011.06.003DOI Listing
November 2011

Long-term observational study of sporadic inclusion body myositis.

Brain 2011 Nov 12;134(Pt 11):3176-84. Epub 2011 Oct 12.

Assistance Publique-Hôpitaux de Paris, Centre de Référence des Pathologies Neuromusculaires Paris Est, Institut de Myologie, 75013 Paris, France.

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http://brain.oxfordjournals.org/content/brain/134/11/3176.fu
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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/awr213DOI Listing
November 2011

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Eur J Hum Genet 2011 Oct 1;19(10):1038-44. Epub 2011 Jun 1.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190262PMC
October 2011

The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome.

J Neurol Neurosurg Psychiatry 2011 Jun 14;82(6):671-3. Epub 2010 Apr 14.

Department of Neurology, Queen's Medical Centre, Derby Road, Nottingham NG7 2UH, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2009.197632
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http://dx.doi.org/10.1136/jnnp.2009.197632DOI Listing
June 2011

Observations on the classification of the inflammatory myopathies.

Presse Med 2011 Apr 5;40(4 Pt 2):e199-208. Epub 2011 Mar 5.

John Radcliffe Hospital, Muscle and Nerve Centre, Department of Neurology, West Wing, Oxford, OX3 9DU, United Kingdom.

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http://dx.doi.org/10.1016/j.lpm.2010.10.035DOI Listing
April 2011

Oculopharyngodistal myopathy--a possible association with cardiomyopathy.

Neuromuscul Disord 2011 Feb 30;21(2):121-5. Epub 2010 Oct 30.

Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661000632
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http://dx.doi.org/10.1016/j.nmd.2010.10.002DOI Listing
February 2011

International Workshop on Inclusion Body Myositis held at the Institute of Myology, Paris, on 29 May 2009.

Neuromuscul Disord 2010 Jun 21;20(6):414-21. Epub 2010 Apr 21.

Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2010.03.014DOI Listing
June 2010

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Brain 2010 May;133(Pt 5):1451-9

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awq083DOI Listing
May 2010

The myotonic dystrophies: diagnosis and management.

J Neurol Neurosurg Psychiatry 2010 Apr 22;81(4):358-67. Epub 2010 Feb 22.

Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp.2008.158261
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http://dx.doi.org/10.1136/jnnp.2008.158261DOI Listing
April 2010

Myasthenia gravis and other neuromuscular junction disorders.

Pract Neurol 2009 Dec;9(6):364-71

Queen Elizabeth Neurosciences Centre, Birmingham, UK.

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http://dx.doi.org/10.1136/jnnp.2009.193912DOI Listing
December 2009

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Neuromuscul Disord 2009 Mar 8;19(3):223-8. Epub 2009 Feb 8.

Department of Neurology, Friedrich Baur Institute, University of Munich, Ziemssenstr. 1a, D-80336 Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2009.01.002DOI Listing
March 2009

Myasthenia gravis seronegative for acetylcholine receptor antibodies.

Ann N Y Acad Sci 2008 ;1132:84-92

Neurosciences Group, Weatherall Institute of Molecular Medicine and Department of Clinical Neurology, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1196/annals.1405.020DOI Listing
September 2008

Caveolinopathy--new mutations and additional symptoms.

Neuromuscul Disord 2008 Jul 25;18(7):572-8. Epub 2008 Jun 25.

Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.nmd.2008.05.003DOI Listing
July 2008

Myopathy associated with statin therapy.

Neuromuscul Disord 2008 Jan 24;18(1):97-8. Epub 2007 Sep 24.

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http://dx.doi.org/10.1016/j.nmd.2007.08.008DOI Listing
January 2008

A young man with rapidly progressive multifocal disease affecting the white matter.

Pract Neurol 2007 Jun;7(3):172-81

MDC Muscle & Nerve Centre, Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.

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http://pn.bmj.com/cgi/doi/10.1136/jnnp.2007.120253
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http://dx.doi.org/10.1136/jnnp.2007.120253DOI Listing
June 2007

Quantitative EMG of facial muscles in myasthenia patients with MuSK antibodies.

Clin Neurophysiol 2007 Feb 8;118(2):269-77. Epub 2006 Dec 8.

Department of Clinical Neurophysiology, The Radcliffe Infirmary, Oxford OX2 6HE, UK.

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http://dx.doi.org/10.1016/j.clinph.2006.10.004DOI Listing
February 2007

Single-fiber electromyography in limb and facial muscles in muscle-specific kinase antibody and acetylcholine receptor antibody myasthenia gravis.

Muscle Nerve 2006 Apr;33(4):568-70

Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Oxford, UK.

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http://dx.doi.org/10.1002/mus.20491DOI Listing
April 2006

Clinical and molecular aspects of the myotonic dystrophies: a review.

Muscle Nerve 2005 Jul;32(1):1-18

Department of Genetics, University of Nottingham, Nottingham, United Kingdom.

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http://dx.doi.org/10.1002/mus.20301DOI Listing
July 2005

A swollen calf.

Lancet 2005 May 7-13;365(9471):1662

Department of Rheumatology, Warwick Hospital, Lakin Road, Warwick CV34 5BW, UK.

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http://dx.doi.org/10.1016/S0140-6736(05)66517-8DOI Listing
May 2005

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

Ann Neurol 2004 Nov;56(5):738-41

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.

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http://doi.wiley.com/10.1002/ana.20283
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http://dx.doi.org/10.1002/ana.20283DOI Listing
November 2004

[Pathogenesis of primary inflammatory myopathies].

Presse Med 2004 Nov;33(20):1444-50

Service de médecine interne 1, Groupe hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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November 2004

Diagnosis and treatment of inflammatory muscle diseases.

J Neurol Neurosurg Psychiatry 2003 Jun;74 Suppl 2:ii25-ii31

Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1765624PMC
http://dx.doi.org/10.1136/jnnp.74.suppl_2.ii25DOI Listing
June 2003

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Muscle Nerve 2003 Jun;27(6):669-75

Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg. 10, Room 4B37, 10 Central Dr., MSC 1361, Bethesda, Maryland 20892-1361, USA.

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http://dx.doi.org/10.1002/mus.10370DOI Listing
June 2003

Syncoilin accumulation in two patients with desmin-related myopathy.

Neuromuscul Disord 2003 Jan;13(1):42-8

Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, OX13QX, Oxford, UK.

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January 2003