Volker Straub

Volker Straub

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Volker Straub

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Fat oxidation is impaired during exercise in lipin-1 deficiency.

Neurology 2019 Oct 6;93(15):e1433-e1438. Epub 2019 Sep 6.

From the Copenhagen Neuromuscular Center (D.R.-P., K.L.M., M.G.S., A.-S.V.E., J.V.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University; and Newcastle Hospitals NHS Foundation Trust (V.S.), UK.

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http://dx.doi.org/10.1212/WNL.0000000000008240DOI Listing
October 2019

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Ann Neurol 2019 Oct 14. Epub 2019 Oct 14.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.25620DOI Listing
October 2019

Performance of Upper Limb module for Duchenne muscular dystrophy.

Dev Med Child Neurol 2019 Sep 19. Epub 2019 Sep 19.

Child Neurology Unit e Centro Nemo, IRCCS Fondazione Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1111/dmcn.14361DOI Listing
September 2019

A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film.

Neuromuscul Disord 2019 Sep 13. Epub 2019 Sep 13.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, NHS England Highly Specialised Service for Rare Neuromuscular Disorders (LGMD), Dental Hospital, Richardson Road, Newcastle upon Tyne NE2 4AZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.008DOI Listing
September 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 Sep 16. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI Listing
September 2019

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Ann Clin Transl Neurol 2019 Jun 16;6(6):1033-1045. Epub 2019 May 16.

The John Walton Muscular Dystrophy Research Centre Institute of Genetic Medicine Newcastle University Newcastle Hospitals NHS Foundation Trust Central Parkway Newcastle Upon Tyne United Kingdom NE1 4EP.

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http://dx.doi.org/10.1002/acn3.774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562036PMC
June 2019

Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis.

Disabil Rehabil 2019 04 18;41(8):966-973. Epub 2017 Dec 18.

c Medical Management Centre, Department of Learning, Informatics, Management and Ethics , Karolinska Institutet , Stockholm , Sweden.

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http://dx.doi.org/10.1080/09638288.2017.1416501DOI Listing
April 2019

Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging.

Magn Reson Med 2019 04 5;81(4):2728-2735. Epub 2018 Nov 5.

The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, The International Centre for Life, Newcastle University, Central Parkway, Newcastle Upon Tyne, United Kingdom.

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http://doi.wiley.com/10.1002/mrm.27578
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http://dx.doi.org/10.1002/mrm.27578DOI Listing
April 2019

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .

Neurol Genet 2019 Apr 1;5(2):e321. Epub 2019 Apr 1.

Neurogenetics Group (W.D.R., P.D.J., J.B.), University of Antwerp; the Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born- Bunge, University of Antwerp; the Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Sorbonne Université (I.N., M.B., R.B.Y., G.B.), INSERM U974, Center of Research in Myology, Institute of Myology, G.H. Pitié-Salpêtrière Paris, France; Histology and Cellular Imaging (B.A.), Neuromics Support Facility, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp; Laboratory for Neuropathology (B.D.P., J.D.B.), Division of Neurology, Ghent University Hospital, Belgium; AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-deFrance (R.B.Y., B.E.), G.H. Pitié-Salpêtrière, Bioinformatics Unit (C.M.), Necker Hospital, AP-HP, and University Paris Descartes, ; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry; Laboratoire de Neuropathologie (T.M.), G.H. Pitié-Salpêtrière, Paris, France; Center for Medical Genetics (S.S.), Ghent University Hospital, Belgium; Developmental Dynamics, Imperial Centre for Experimental and Translational Medicine (R.S., T.B.), Imperial College London; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641PMC
April 2019

236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018.

Neuromuscul Disord 2019 Mar 12;29(3):251-259. Epub 2019 Jan 12.

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

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http://dx.doi.org/10.1016/j.nmd.2019.01.002DOI Listing
March 2019

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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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

Bones and muscular dystrophies: what do we know?

Curr Opin Neurol 2018 10;31(5):583-591

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

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http://dx.doi.org/10.1097/WCO.0000000000000603DOI Listing
October 2018

Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis.

Muscle Nerve 2018 09 25;58(3):367-373. Epub 2018 Mar 25.

Medical Management Centre, Department of Learning, Informatics, Management and Ethics, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mus.26109DOI Listing
September 2018

BAG3 myopathy is not always associated with cardiomyopathy.

Neuromuscul Disord 2018 09 5;28(9):798-801. Epub 2018 Jul 5.

Copenhagen Neuromuscular Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.nmd.2018.06.019DOI Listing
September 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Neuromuscul Disord 2018 08 13;28(8):633-638. Epub 2018 Jul 13.

Neuromuscular disorders Unit, Neurology Department, Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER CB06/05/0030), Universitat Autònoma de Barcelona, Hospital de la Santa Creu I Sant Pau, C/Sant Antoni Mª Claret 167, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.06.002DOI Listing
August 2018

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30-31 January 2017.

Neuromuscul Disord 2018 08 6;28(8):690-701. Epub 2018 Jun 6.

Pediatric Neurology Unit, Fondazione Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.013DOI Listing
August 2018

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Neuromuscul Disord 2018 08 24;28(8):702-710. Epub 2018 May 24.

Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Neurology, Tampere, Finland; The Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2018.05.007DOI Listing
August 2018

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Epigenomics 2018 07 22;10(7):875-889. Epub 2018 Mar 22.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.2217/epi-2018-0022DOI Listing
July 2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Neuromuscul Disord 2018 07 16;28(7):614-618. Epub 2018 May 16.

The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2018.04.012DOI Listing
July 2018

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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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

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

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http://dx.doi.org/10.3389/fneur.2018.00456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028608PMC
June 2018

The effects of ageing on mouse muscle microstructure: a comparative study of time-dependent diffusion MRI and histological assessment.

NMR Biomed 2018 03 9;31(3). Epub 2018 Jan 9.

Institute of Cellular Medicine and Centre for In Vivo Imaging, Newcastle University, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1002/nbm.3881DOI Listing
March 2018

Ultrasensitive Hybridization-Based ELISA Method for the Determination of Phosphorodiamidate Morpholino Oligonucleotides in Biological samples.

Methods Mol Biol 2017 ;1565:265-277

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

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http://dx.doi.org/10.1007/978-1-4939-6817-6_22DOI Listing
February 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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http://dx.doi.org/10.1016/j.nmd.2017.09.017DOI Listing
January 2018

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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http://dx.doi.org/10.1016/j.nmd.2017.06.013DOI Listing
November 2017

Multidisciplinary Clinics.

J Pediatr Orthop 2017 Jul/Aug;37 Suppl 1:S29-S30

*Functional Area Occupational Therapy and Physiotherapy †Astrid Lindgren Childrens Hospital, Karolinska University Hospital Stockholm, Sweden ‡Department of Plastic Surgery, Royal Victoria Infirmary §The John Walton Research Centre for Neuromuscular Disorders, Institute of Human Genetics, Newcastle University ∥Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1097/BPO.0000000000000999DOI Listing
October 2017

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Nucleic Acid Ther 2017 Oct 10;27(5):251-259. Epub 2017 Aug 10.

4 Central Nervous System and Ophthalmology, Scientific and Regulatory Management Department, Human Medicines Evaluation Division, European Medicines Agency , London, United Kingdom .

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http://dx.doi.org/10.1089/nat.2017.0682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649120PMC
October 2017

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Neuromuscul Disord 2017 Sep 4;27(9):861-872. Epub 2017 May 4.

Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.002DOI Listing
September 2017

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease.

Neuropediatrics 2017 08 2;48(4):233-241. Epub 2017 Jul 2.

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

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http://dx.doi.org/10.1055/s-0037-1604111DOI Listing
August 2017

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

J Neurol 2017 Jun 26;264(6):1271-1280. Epub 2017 May 26.

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

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http://dx.doi.org/10.1007/s00415-017-8525-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486574PMC
June 2017

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis.

Pharmacoeconomics 2017 02;35(2):249-258

Department of Learning, Informatics, Management and Ethics, Medical Management Centre, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s40273-016-0461-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253157PMC
February 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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http://dx.doi.org/10.1016/j.nmd.2016.10.009DOI Listing
February 2017

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.

Front Public Health 2017 24;5:25. Epub 2017 Feb 24.

Centre for Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.3389/fpubh.2017.00025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323409PMC
February 2017

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

Neurology 2016 Sep 10;87(10):1031-5. Epub 2016 Aug 10.

From the John Walton Muscular Dystrophy Research Centre (H.E.S., E.H., R.B., J.M., V.S.), Newcastle University; Department of Cardiology (A.B., J.P.B.), Freeman Hospital, NUTH NHS Foundation Trust; Medical Research Council Mitochondrial Biology Unit (P.F.C.); and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027812PMC
September 2016

Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) 937-944].

Neuromuscul Disord 2016 Apr-May;26(4-5):329. Epub 2016 Mar 14.

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

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http://dx.doi.org/10.1016/j.nmd.2016.02.001DOI Listing
August 2016

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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http://dx.doi.org/10.1212/NXG.0000000000000089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875PMC
August 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

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

Lancet Neurol 2016 07;15(8):882-890

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

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http://dx.doi.org/10.1016/S1474-4422(16)30035-7DOI Listing
July 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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http://dx.doi.org/10.1002/mus.24991DOI Listing
June 2016

Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study.

Dev Med Child Neurol 2016 May 19;58(5):508-15. Epub 2015 Oct 19.

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

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http://dx.doi.org/10.1111/dmcn.12938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949722PMC
May 2016

Quantifying the burden of caregiving in Duchenne muscular dystrophy.

J Neurol 2016 May 10;263(5):906-915. Epub 2016 Mar 10.

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

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http://dx.doi.org/10.1007/s00415-016-8080-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859858PMC
May 2016

Limb-girdle muscular dystrophies - international collaborations for translational research.

Nat Rev Neurol 2016 05 1;12(5):294-309. Epub 2016 Apr 1.

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

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http://dx.doi.org/10.1038/nrneurol.2016.35DOI Listing
May 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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http://jnnp.bmj.com/content/87/4/448.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-309349
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http://dx.doi.org/10.1136/jnnp-2014-309349DOI Listing
April 2016

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

Neuromuscul Disord 2016 Feb 18;26(2):111-25. Epub 2015 Dec 18.

The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2015.11.012DOI Listing
February 2016

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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http://dx.doi.org/10.1136/archdischild-2015-308654DOI Listing
January 2016

Recent advances in the management of Duchenne muscular dystrophy.

Arch Dis Child 2015 Dec 7;100(12):1173-7. Epub 2015 Jul 7.

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

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http://dx.doi.org/10.1136/archdischild-2014-307962DOI Listing
December 2015

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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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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http://dx.doi.org/10.1055/s-0035-1563696DOI Listing
December 2015

Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT).

Neuromuscul Disord 2015 Dec 26;25(12):937-44. Epub 2015 Sep 26.

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

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http://dx.doi.org/10.1016/j.nmd.2015.09.012DOI Listing
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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http://dx.doi.org/10.1016/j.nmd.2015.07.014DOI Listing
November 2015

Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides.

Nucleic Acid Ther 2015 Oct 15;25(5):275-84. Epub 2015 Jul 15.

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

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http://dx.doi.org/10.1089/nat.2014.0528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4576940PMC
October 2015

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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http://dx.doi.org/10.1016/j.nmd.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778PMC
June 2015

Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes.

Radiology 2015 May 7;275(2):570-8. Epub 2015 Jan 7.

From the Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Campus for Ageing and Vitality, Newcastle University, Newcastle upon Tyne NE4 5PL, England (T.L., A.C., K.G.H.); Philips Healthcare, Guildford, Surrey, England (D.M.H.); and The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England (M.M., V.S.).

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http://dx.doi.org/10.1148/radiol.14141191DOI Listing
May 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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http://dx.doi.org/10.1016/j.nmd.2014.12.006DOI Listing
April 2015

Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice.

J Cardiovasc Transl Res 2015 Apr 21;8(3):198-207. Epub 2015 Apr 21.

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

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http://dx.doi.org/10.1007/s12265-015-9623-7DOI Listing
April 2015

Compliance to Care Guidelines for Duchenne Muscular Dystrophy.

J Neuromuscul Dis 2015 ;2(1):63-72

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

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http://dx.doi.org/10.3233/JND-140053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746744PMC
January 2015