Publications by authors named "Volker Straub"

100Publications

Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead.

Neuromuscul Disord 2020 Oct 16. Epub 2020 Oct 16.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2020.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564510PMC
October 2020

Skeletal muscle magnetic resonance imaging in Pompe disease.

Muscle Nerve 2020 Nov 6. Epub 2020 Nov 6.

John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/mus.27099DOI Listing
November 2020

Episodic hyperCKemia may be a feature of α-methylacyl-CoA racemase deficiency.

Eur J Neurol 2020 Oct 12. Epub 2020 Oct 12.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/ene.14588DOI Listing
October 2020

247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019.

Neuromuscul Disord 2020 Nov 26;30(11):938-947. Epub 2020 Aug 26.

John Walton Muscular Dystrophy Research Center, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.08.360DOI Listing
November 2020

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/s10038-020-0803-1DOI Listing
November 2020

Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features.

Genes (Basel) 2020 Jun 27;11(7). Epub 2020 Jun 27.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.3390/genes11070716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397187PMC
June 2020

High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia.

J Clin Lipidol 2020 Jul - Aug;14(4):459-469.e0. Epub 2020 May 29.

Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), Vancouver, BC, Canada; Centre for Heart & Lung Innovation, St. Paul's Hospital, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.05.098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492428PMC
May 2020

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genet Med 2020 Sep 11;22(9):1478-1488. Epub 2020 Jun 11.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/s41436-020-0840-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462745PMC
September 2020

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.

Hum Mutat 2020 Sep 11;41(9):1600-1614. Epub 2020 Jul 11.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children's Hospital University of Essen, Essen, Germany.

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http://dx.doi.org/10.1002/humu.24062DOI Listing
September 2020

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.

Neuromuscul Disord 2020 06 18;30(6):483-491. Epub 2020 Apr 18.

Latvian Biomedical Research and Study Centre, Ratsupites 1, Riga LV-1067, Latvia; Medical Genetics department, CHUQ, 2705 Blvd Laurier, Quebec City, Canada.

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http://dx.doi.org/10.1016/j.nmd.2020.03.010DOI Listing
June 2020

Cognitive impairment appears progressive in the mdx mouse.

Neuromuscul Disord 2020 05 4;30(5):368-388. Epub 2020 Mar 4.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Times Square, Newcastle upon Tyne NE1 3BZ, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306157PMC
May 2020

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Neuromuscul Disord 2020 04 14;30(4):310-314. Epub 2020 Feb 14.

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.02.006DOI Listing
April 2020

Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.

Neuromuscul Disord 2020 04 12;30(4):315-328. Epub 2020 Mar 12.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Centre for Life, Newcastle NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.nmd.2020.03.001DOI Listing
April 2020

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.

Neurology 2020 05 5;94(21):e2270-e2282. Epub 2020 Mar 5.

From Sarepta Therapeutics (D.E.F., F.J.S., C.A., S.H.E.-H., C.A.D., J.S.C.), Cambridge, MA; University College London (J.M., V.S., J.D., F.M.); Centre of Gene and Cell Therapy and Centre for Biomedical Sciences (G.D.), Royal Holloway, University of London, Egham, Surrey; Newcastle University John Walton Muscular Dystrophy Research Centre and the Newcastle Hospitals NHS Foundation Trust (V.S., M.G.), Newcastle upon Tyne, UK; Paediatric Neurology and Centro Clinico Nemo (E.M.), Catholic University and Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; Institute I-Motion (L.S.), Hôpital Armand-Trousseau, Paris, France; Neuromuscular Reference Center (L.S.), CHU Liège, Belgium; Great Ormond Street Hospital (F.M.); and NIHR Great Ormond Street Hospital Biomedical Research Centre (F.M.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000009233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357297PMC
May 2020

Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy.

NMR Biomed 2020 05 26;33(5):e4276. Epub 2020 Feb 26.

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.4276DOI Listing
May 2020

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies.

Neurology 2020 03 6;94(10):e1094-e1102. Epub 2020 Feb 6.

From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000009068DOI Listing
March 2020

Multisystem proteinopathy due to a homozygous p.Arg159His mutation: A tale of the unexpected.

Neurology 2020 02 17;94(8):e785-e796. Epub 2019 Dec 17.

From the Neurogenetics Group (W.D.R., P.D.J., J.B.), Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born-Bunge, Neuromics Support Facility (A.A.), VIB-UAntwerp Center for Molecular Neurology, and Receptor Biology Lab (S.M.), Department of Biomedical Sciences, University of Antwerp; Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Institute of Neuropathology (C.S.C., R.S.), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen; Centre for Biochemistry (C.S.C., L.E.), Institute of Biochemistry I, and Center for Physiology and Pathophysiology (C.S.C.), Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Germany; Griffith Institute for Drug Discovery (A.H), Griffith University, Nathan, Brisbane, Queensland; Department of Veterinary Biosciences (A.H.), Melbourne Veterinary School, Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Parkville, Victoria, Australia; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-Upon-Tyne, UK; and Laboratory for Neuropathology (J.L.D.B.), Division of Neurology, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000008763DOI Listing
February 2020

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Neuromuscul Disord 2019 12 23;29(12):951-960. Epub 2019 Oct 23.

Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2019.10.002DOI Listing
December 2019

A comparison of the bone and growth phenotype of , and murine models with the C57BL/10 wild-type mouse.

Dis Model Mech 2020 01 10;13(2). Epub 2020 Jan 10.

Division of Developmental Biology, Roslin Institute, University of Edinburgh, Midlothian, EH25 9RG, UK.

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http://dx.doi.org/10.1242/dmm.040659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994935PMC
January 2020

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 11 16;29(11):827-841. 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
November 2019

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

Neuromuscul Disord 2019 11 13;29(11):874-880. 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
November 2019

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

Ann Neurol 2019 12 28;86(6):832-843. Epub 2019 Oct 28.

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
December 2019

Performance of Upper Limb module for Duchenne muscular dystrophy.

Dev Med Child Neurol 2020 05 19;62(5):633-639. 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
May 2020

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

Neurology 2019 10 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

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

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 03 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

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
Publisher Site
http://dx.doi.org/10.1002/mrm.27578DOI Listing
April 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

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

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

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

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

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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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