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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu, Natasha; Laitila, Jenni; Dugdale, Hannah F; Mariano, Jennifer; Kolb, Justin S; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Fiorillo, Chiara; Zanoteli, Edmar; Auranen, Mari; Jokela, Manu; Tasca, Giorgio; Claeys, Kristl G; Voermans, Nicol C; Palmio, Johanna; Huovinen, Sanna; Moggio, Maurizio; Beck, Thomas Nyegaard; Kontrogianni-Konstantopoulos, Aikaterini; Granzier, Henk; Ochala, Julien.
Afiliação
  • Ranu N; Centre of Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK.
  • Laitila J; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Dugdale HF; The Folkhälsan Institute of Genetics and Department of Medical and Clinical Genetics, Medicum, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Mariano J; Centre of Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK.
  • Kolb JS; School of Sport, Exercise and Health Sciences, Loughborough University, Loughborough, UK.
  • Wallgren-Pettersson C; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, USA.
  • Witting N; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, USA.
  • Vissing J; The Folkhälsan Institute of Genetics and Department of Medical and Clinical Genetics, Medicum, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Vilchez JJ; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Fiorillo C; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Zanoteli E; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Auranen M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Spain, Valencia, Spain.
  • Jokela M; Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, DINOGMI, University of Genoa, Genoa, Italy.
  • Tasca G; Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, Brazil.
  • Claeys KG; Clinical Neurosciences, University of Helsinki and Helsinki University Hospital, NeurologyHelsinki, Finland.
  • Voermans NC; Neurology, Clinical Medicine, University of Turku, Turku, Finland.
  • Palmio J; Neurocenter, Turku University Hospital, Turku, Finland.
  • Huovinen S; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.
  • Moggio M; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario "A. Gemelli", IRCCS, Rome, Italy.
  • Beck TN; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.
  • Kontrogianni-Konstantopoulos A; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Granzier H; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
  • Ochala J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Acta Neuropathol Commun ; 10(1): 185, 2022 12 17.
Article em En | MEDLINE | ID: mdl-36528760
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido