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  • 1.
    Bladen, Catherine L.
    et al.
    Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Medical Research Council, Newcastle Upon Tyne, England.
    Rafferty, Karen
    Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Medical Research Council, Newcastle Upon Tyne, England.
    Straub, Volker
    Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Medical Research Council, Newcastle Upon Tyne, England.
    Monges, Soledad
    Moresco, Angelica
    Hosp Pediat JP Garrahan, Buenos Aires DF, Argentina..
    Dawkins, Hugh
    Department of Health, Office of Population Health Genomics, Perth WA, Australia.
    Roy, Anna
    The Scientific Institute of Public Health (WIV ISP), Brussels, Belgium.
    Chamova, Teodora
    Dept Neurol, Sofia, Med Univ Sofia, Sofia, Bulgaria.
    Guergueltcheva, Velina
    Dept Neurol, Med Univ Sofia, Sofia, Bulgaria.
    Korngut, Lawrence
    Hlth Sci Ctr, Univ Calgary, Calgary AB, Canada.
    Campbell, Craig
    Dept Paediat Clin Neurol Sci & Epidemiol, Univ Western Ontario, London ON, Canada.
    Dai, Yi
    Dept Neurol, Peking Union Med Coll Hosp, Peking Union Med Coll, Beijing , Peoples R China; Chinese Acad Med Sci, Beijing, Peoples R China.
    Barisic, Nina
    Sch Med, Div Paediat Neurol, Univ Hosp Ctr, Univ Zagreb, Zagreb, Croatia.
    Kos, Tea
    Sch Med, Div Paediat Neurol, Univ Hosp Ctr, Univ Zagreb, Zagreb, Croatia.
    Brabec, Petr
    Inst Biostat & Anal, Masaryk Univ, Brno, Czech Republic..
    Rahbek, Jes
    Natl Danish Rehabil Ctr Neuromuscular Dis, Aarhus, Denmark.
    Lahdetie, Jaana
    Cent Hosp, Turku Univ, Turku, Finland.
    Tuffery-Giraud, Sylvie
    Lab Genet Malad Rares, Univ Montpellier I, Montpellier, France; INSERM, Montpellier, France.
    Claustres, Mireille
    Lab Genet Malad Rares, Univ Montpellier I, Montpellier, France; INSERM, Montpellier, France.
    Leturcq, France
    Lab Biochim & Genet Mol, Hop Cochin, Paris, France..
    Ben Yaou, Rabah
    Lab Biochim & Genet Mol, Hop Cochin, Paris, France.
    Walter, Maggie C.
    Dept Neurol, Friedrich Baur Inst, Univ Munich, Munich, Germany.
    Schreiber, Olivia
    Dept Neurol, Friedrich Baur Inst, Univ Munich, Munich, Germany.
    Karcagi, Veronika
    Dept Mol Genet, National Institute of Environmental Health, Budapest, Hungary.
    Herczegfalvi, Agnes
    Dept Mol Genet, National Institute of Environmental Health, Budapest, Hungary.
    Viswanathan, Venkatarman
    Kanchi Kamakoti CHILDS Trust Hosp, Madras, India.
    Bayat, Farhad
    Pasteur Inst Iran, Tehran, Iran.
    Sarmiento, Isis de la Caridad Guerrero
    Pasteur Inst Iran, Tehran, Iran.
    Ambrosini, Anna
    Foundation Telethon Piazza Cavour, Milan, Italy.
    Ceradini, Francesca
    Hosp Pediat JP Garrahan, Buenos Aires DF, Argentina; Parent Project Onlus, Rome, Italy.
    Kimura, En
    Translat Med Ctr, Natl Ctr Neurol & Psychiat Kodaira, Tokyo, Japan.
    van den Bergen, Janneke C.
    Med Ctr, Dept Neurol, Leiden Univ, Leiden, Netherlands.
    Rodrigues, Miriam
    Auckland City Hosp, Auckland, New Zealand.
    Roxburgh, Richard
    Auckland City Hosp, Auckland, New Zealand..
    Lusakowska, Anna
    Warszawa Banacha 1A, Dept Neurol, Warsaw, Poland.
    Oliveira, Jorge
    Ctr Genet Med Jacinto Magalhaes, Oporto, Portugal..
    Santos, Rosario
    Ctr Genet Med Jacinto Magalhaes, Oporto, Portugal..
    Neagu, Elena
    Pediat Neurol Dept, Hosp Al Obregia, Bucharest, Romania..
    Butoianu, Niculina
    Pediat Neurol Dept, Hosp Al Obregia, Bucharest, Romania..
    Artemieva, Svetlana
    Rublevskoe Shosse, Moscow, Russia..
    Rasic, Vedrana Milic
    Clin Child Neurol & Psychiat, Belgrade, Serbia..
    Posada, Manuel
    Inst Rare Dis Res, Inst Hlth Carlos III, Madrid, Spain.
    Palau, Francesc
    Unit Genet, Hosp La Fe, Valencia, Spain..
    Lindvall, Björn
    Örebro University Hospital.
    Bloetzer, Clemens
    Paediat Neurol & Neurorehabil Unit, Univ Lausanne Hosp, Lausanne, Switzerland..
    Karaduman, Ayse
    Fac Hlth Sci, Dept Physiotherapy & Rehabil, Hacettepe Univ, Ankara, Turkey..
    Topaloglu, Haluk
    Fac Hlth Sci, Dept Physiotherapy & Rehabil, Hacettepe Univ, Ankara, Turkey..
    Inal, Serap
    Dept Neurol, PTR Unit, Istanbul Univ, Fac Med, Istanbul, Turkey..
    Oflazer, Piraye
    Dept Neurol, PTR Unit, Istanbul Univ, Fac Med, Istanbul, Turkey..
    Stringer, Angela
    Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle upon Tyne, United Kingdom; Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia; Act Duchenne, Epictr, London, England..
    Shatillo, Andriy V.
    Inst Neurol Psychiat & Narcol NAMS, Kharkov, Ukraine..
    Martin, Ann S.
    DuchenneConnect, Hackensack NJ, USA.
    Peay, Holly
    DuchenneConnect, Hackensack NJ, USA.
    Flanigan, Kevin M.
    Ohio State Univ, Columbus OH, USA.;Nationwide Childrens Hosp, Columbus OH, USA.
    Salgado, David
    Fac Med Timone INSERM, UMR S910, Aix Marseille Univ, Marseille, France; Australian Regenerat Med Inst, EMBL Australia, Monash Univ, Clayton Vic, Australia.
    von Rekowski, Brigitta
    MRC, Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Newcastle Upon Tyne, England..
    Lynn, Stephen
    MRC, Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Newcastle Upon Tyne, England..
    Heslop, Emma
    MRC, Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Newcastle Upon Tyne, England..
    Gainotti, Sabina
    Annali dell'Istituto Superiore di Sanità, Natl Ctr Rare Dis, Rome, Italy.
    Taruscio, Domenica
    Annali dell'Istituto Superiore di Sanità, Natl Ctr Rare Dis, Rome, Italy.
    Kirschner, Jan
    Univ Med Ctr, Freiburg, Germany..
    Verschuuren, Jan
    Dept Neurol, ZA, Leiden Univ, Med Ctr, Leiden, Netherlands.
    Bushby, Kate
    MRC, Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Newcastle Upon Tyne, England..
    Beroud, Christophe
    Fac Med Timone, INSERM, UMR S910, Aix Marseille Univ, Marseille, France..
    Lochmueller, Hanns
    MRC, Ctr Neuromuscular Dis Newcastle, Inst Med Genet, Newcastle Upon Tyne , England..
    The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia2013In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 34, no 11, p. 1449-1457Article in journal (Refereed)
    Abstract [en]

    Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence<5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.

  • 2.
    Danielsson, Olof
    et al.
    Dept Clin & Expt Med, Div Neurol, Fac Hlth Sci, Linköping University, Linköping, Sweden; Div Clin Immunol, Fac Hlth Sci, Linköping University, Linköping, Sweden; Dept Neurol, Cty Council Östergötland, Linköping, Sweden; Dept Clin Immunol & Transfus Med, Cty Council Östergötland, Linköping, Sweden.
    Lindvall, Björn
    Dept Neurol, Örebro University Hospital, Örebro, Sweden.
    Gati, Istvan
    Dept Clin & Expt Med, Div Neurol, Fac Hlth Sci, Linköping University, Linköping, Sweden; Div Clin Immunol, Fac Hlth Sci, Linköping University, Linköping, Sweden; Dept Neurol, Cty Council Östergötland, Linköping, Sweden; Dept Clin Immunol & Transfus Med, Cty Council Östergötland, Linköping, Sweden.
    Ernerudh, Jan
    Classification and Diagnostic Investigation in Inflammatory Myopathies: A Study of 99 Patients2013In: Journal of Rheumatology, ISSN 0315-162X, E-ISSN 1499-2752, Vol. 40, no 7, p. 1173-1182Article in journal (Refereed)
    Abstract [en]

    Objective. Insights into the pathogenesis of inflammatory myopathies have led to new diagnostic methods. The aims of our study were (1) to evaluate the consequences of using the classification of Amato/European Neuromuscular Centre Workshop (ENMC), compared to that of Bohan and Peter; and (2) to evaluate any diagnostic benefit in using an extended pathological investigation. Methods. From a consecutive retrospective database, we evaluated 99 patients for classification. Patients with inclusion body myositis (IBM) were classified according to Griggs, et al. In addition to routine stainings and immunohistochemistry, a multilevel serial sectioning procedure was performed on paraffin-embedded material, to identify scarce pathological findings. Results. Classification according to Bohan and Peter could be performed for 83 of the 99 patients, whereas only 60 patients met the Amato/ENMC criteria, the latter resulting in the following diagnostic groups: IBM (n = 18), nonspecific myositis (n = 14), polymyositis (n = 12), dermatomyositis (n = 10), dermatomyositis sine dermatitis (n = 5), and immune-mediated necrotizing myopathy (n = 1). Most of the Amato/ENMC diagnostic groups harbored patients from several of the Bohan and Peter groups, which included a substantial group lacking proximal muscle weakness. The serial sectioning procedure was essential for classification of 9 patients (15%), and led to a more specific diagnosis for 13 patients (22%) according to Amato/ENMC. Conclusion. The classification of Amato/ENMC was more restrictive, forming groups based on clinical criteria and specified myopathological findings, which clearly differed from the groups of the Bohan and Peter classification. An extended pathological investigation increased the diagnostic yield of a muscle biopsy and highlights the quantity and specificity of certain pathological findings.

  • 3.
    Hedberg, Carola
    et al.
    Dept Pathol, Sahlgrenska Univ Hosp, Univ Gothenburg, Gothenburg, Sweden.
    Niceta, Marcello
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Fattori, Fabiana
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Lindvall, Björn
    Örebro University Hospital. Department of Neurology, Muscle Centre, Örebro University Hospital, Örebro, Sweden.
    Ciolfi, Andrea
    Ist Super Sanita, Rome, Italy..
    D'Amico, Adele
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Tasca, Giorgio
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Petrini, Stefania
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Tulinius, Mar
    Dept Pediat, Queen Silvia Childrens Hosp, Univ Gothenburg, Gothenburg, Sweden.; Dept Pediat, Sahlgrenska Univ Hosp, Univ Gothenburg, Gothenburg, Sweden.
    Tartaglia, Marco
    Ist Super Sanita, Rome, Italy..
    Oldfors, Anders
    Dept Pathol, Sahlgrenska Univ Hosp, Univ Gothenburg, Gothenburg, Sweden.
    Bertini, Enrico
    Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy.
    Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations2014In: Journal of Neurology, ISSN 0340-5354, E-ISSN 1432-1459, Vol. 261, no 5, p. 870-876Article in journal (Refereed)
    Abstract [en]

    We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant. In all three patients mutations were identified in the gene STIM1, and the mutations were found to be de novo in all patients. In one of the patients the mutation was identified by exome sequencing. Two patients harbored the previously described mutation c.326A > G p.(His109Arg), while the third patient had a novel mutation c.343A > T p.(Ile115Phe). Taking our series together with previously published cases, the c.326A > G p.(His109Arg) seems to be a hotspot mutation that is characteristically related to early onset muscle weakness.

  • 4.
    Marklund, Peter
    et al.
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Mattsson, C. Mikael
    The Swedish School of Sport and Health Sciences, Stockholm, Sweden; Karolinska Institutet, Stockholm, Sweden.
    Wåhlin-Larsson, Britta
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Ponsot, Elodie
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Lindvall, Björn
    Örebro University Hospital, Örebro, Sweden.
    Lindvall, Lisbeth
    Örebro University Hospital, Örebro, Sweden.
    Ekblom, Björn
    The Swedish School of Sport and Health Sciences, Stockholm, Sweden; Karolinska Institutet, Stockholm, Sweden.
    Kadi, Fawzi
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Extensive inflammatory cell infiltration in human skeletal muscle in response to an ultraendurance exercise bout in experienced athletes2013In: Journal of applied physiology, ISSN 8750-7587, E-ISSN 1522-1601, Vol. 114, no 1, p. 66-72Article in journal (Refereed)
    Abstract [en]

    The impact of a 24-h ultraendurance exercise bout on systemic and local muscle inflammatory reactions was investigated in nine experienced athletes. Blood and muscle biopsies were collected before (Pre), immediately after the exercise bout (Post), and after 28 h of recovery (Post28). Circulating blood levels of leukocytes, creatine kinase (CK), C-reactive protein (CRP), and selected inflammatory cytokines were assessed together with the evaluation of the occurrence of inflammatory cells (CD3(+), CD8(+), CD68(+)) and the expression of major histocompatibility complex class I (MHC class I) in skeletal muscle. An extensive inflammatory cell infiltration occurred in all athletes, and the number of CD3(+), CD8(+), and CD68(+) cells were two- to threefold higher at Post28 compared with Pre (P < 0.05). The inflammatory cell infiltration was associated with a significant increase in the expression of MHC class I in muscle fibers. There was a significant increase in blood leukocyte count, IL-6, IL-8, CRP, and CK at Post. At Post28, total leukocytes, IL-6, and CK had declined, whereas IL-8 and CRP continued to increase. Increases in IL-1β and TNF-α were not significant. There were no significant associations between the magnitude of the systemic and local muscle inflammatory reactions. Signs of muscle degenerative and regenerative events were observed in all athletes with various degrees of severity and were not affected by the 24-h ultraendurance exercise bout. In conclusion, a low-intensity but very prolonged single-endurance exercise bout can generate a strong inflammatory cell infiltration in skeletal muscle of well-trained experienced ultraendurance athletes, and the amplitude of the local reaction is not proportional to the systemic inflammatory response.

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