Publications by authors named "Kate Bushby"

100Publications

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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January 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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June 2018

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Neuromuscul Disord 2018 01 12;28(1):48-53. Epub 2017 Oct 12.

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

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January 2018

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.

Neuromuscul Disord 2017 Oct 6;27(10):894-904. Epub 2017 Jul 6.

Department of Clinical Research Support, Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8551, Japan. Electronic address:

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October 2017

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Neuromuscul Disord 2017 Nov 22;27(11):1009-1017. Epub 2017 Jun 22.

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

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November 2017

How the EUCERD Joint Action supported initiatives on Rare Diseases.

Eur J Med Genet 2017 Mar 10;60(3):185-189. Epub 2017 Jan 10.

John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.

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March 2017

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.

Neuromuscul Disord 2017 Feb 3;27(2):170-174. Epub 2016 Nov 3.

Newcastle University John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK. Electronic address:

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February 2017

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Neurol Genet 2016 Aug 4;2(4):e89. Epub 2016 Aug 4.

The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital

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August 2016

Challenges raised by cross-border testing of rare diseases in the European union.

Eur J Hum Genet 2016 11 6;24(11):1547-1552. Epub 2016 Jul 6.

National Institute for Health and Welfare, Helsinki, Finland.

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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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August 2016

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks.

Orphanet J Rare Dis 2016 Feb 24;11:17. Epub 2016 Feb 24.

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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February 2016

The importance of genetic diagnosis for Duchenne muscular dystrophy.

J Med Genet 2016 Mar 11;53(3):145-51. Epub 2016 Jan 11.

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular diseases, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.

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March 2016

Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy.

Muscle Nerve 2016 06 27;54(1):79-85. Epub 2016 Apr 27.

The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

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June 2016

Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy.

Neuropediatrics 2015 Dec 26;46(6):371-6. Epub 2015 Sep 26.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle Upon Tyne, United Kingdom.

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December 2015

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Neuromuscul Disord 2015 Nov 27;25(11):835-42. Epub 2015 Jul 27.

Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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November 2015

Short stature and pubertal delay in Duchenne muscular dystrophy.

Arch Dis Child 2016 Jan 3;101(1):101-6. Epub 2015 Jul 3.

Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Institute of Genetic Medicine, Newcastle upon Tyne, UK.

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January 2016

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

J Neurol Neurosurg Psychiatry 2016 Apr 7;87(4):448-50. Epub 2015 May 7.

Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital, Vasa, Finland.

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April 2016

Phenotypic variability of TRPV4 related neuropathies.

Neuromuscul Disord 2015 Jun 18;25(6):516-21. Epub 2015 Mar 18.

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

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June 2015

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.

Neuromuscul Disord 2015 Apr 24;25(4):349-52. Epub 2014 Dec 24.

The JW Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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April 2015

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review.

Arch Dis Child 2014 Dec 3;99(12):1074-7. Epub 2014 Sep 3.

MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.

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December 2014

Collagen type VI myopathies.

Adv Exp Med Biol 2014 ;802:185-99

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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May 2014

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.

Orphanet J Rare Dis 2013 Oct 23;8:171. Epub 2013 Oct 23.

Department of Neuropaediatrics and Muscle Disorders, University Medical Center Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany.

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October 2013

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Dev Med Child Neurol 2013 Nov 5;55(11):1046-52. Epub 2013 Aug 5.

Institute of Genetic Medicine, Newcastle University, Newcastle, UK.

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November 2013

Becker and Duchenne muscular dystrophy: a two-way information process for therapies.

J Neurol Neurosurg Psychiatry 2014 Jan 21;85(1):5-6. Epub 2013 May 21.

Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.

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January 2014

Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months.

Muscle Nerve 2013 Oct 30;48(4):586-8. Epub 2013 Aug 30.

Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, UK.

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October 2013

Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

Eur J Heart Fail 2013 Sep 10;15(9):986-94. Epub 2013 Apr 10.

Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

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September 2013

Corticosteroids in Duchenne muscular dystrophy: major variations in practice.

Muscle Nerve 2013 Jul 25;48(1):27-31. Epub 2013 Apr 25.

University of Rochester, Departments of Neurology and Biostatistics, 265 Crittenden Boulevard, CU 420669, Rochester, New York, 14642, USA.

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July 2013

Muscular dystrophy in dysferlin-deficient mouse models.

Neuromuscul Disord 2013 May 7;23(5):377-87. Epub 2013 Mar 7.

Newcastle University, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, United Kingdom.

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May 2013

Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy.

Phys Med Rehabil Clin N Am 2012 Nov;23(4):821-8

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.

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November 2012

Presymptomatic late-onset Pompe disease identified by the dried blood spot test.

Neuromuscul Disord 2013 Jan 10;23(1):89-92. Epub 2012 Oct 10.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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January 2013

Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings.

Clin Investig (Lond) 2011 Sep;1(9):1217-1235

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

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September 2011

Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK.

Neuromuscul Disord 2012 May 17;22(5):445-6. Epub 2012 Mar 17.

School for Policy Studies, University of Bristol, UK.

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May 2012

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

Hum Mol Genet 2011 Dec 15;20(24):4879-90. Epub 2011 Sep 15.

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

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December 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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October 2011

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands.

Neuromuscul Disord 2011 Jul 23;21(7):503-12. Epub 2011 May 23.

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, and Inserm UMR_S 910, Université de la Méditerranée, Marseille, France.

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July 2011

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Dev Med Child Neurol 2011 Jun 17;53(6):535-42. Epub 2011 Mar 17.

Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.

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June 2011

Endocrine aspects of Duchenne muscular dystrophy.

Neuromuscul Disord 2011 Apr 25;21(4):298-303. Epub 2011 Feb 25.

Bone Metabolism Unit, Istituto Auxologico Italiano IRCCS, Milano, Italy.

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April 2011

Neuromuscular diseases: milestones in development of treatments.

Authors:
Kate Bushby

Lancet Neurol 2011 Jan;10(1):11-3

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

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January 2011

Reverse engineering gene network identifies new dysferlin-interacting proteins.

J Biol Chem 2011 Feb 30;286(7):5404-13. Epub 2010 Nov 30.

TIGEM-Telethon Institute of Genetics and Medicine, 80131 Naples, Italy.

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February 2011