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Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
Joureau, Barbara; de Winter, Josine Marieke; Conijn, Stefan; Bogaards, Sylvia J P; Kovacevic, Igor; Kalganov, Albert; Persson, Malin; Lindqvist, Johan; Stienen, Ger J M; Irving, Thomas C; Ma, Weikang; Yuen, Michaela; Clarke, Nigel F; Rassier, Dilson E; Malfatti, Edoardo; Romero, Norma B; Beggs, Alan H; Ottenheijm, Coen A C.
Affiliation
  • Joureau B; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • de Winter JM; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Conijn S; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Bogaards SJP; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Kovacevic I; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Kalganov A; Department of Kinesiology and Physical Education, McGill University, Montreal, Quebec, Canada.
  • Persson M; Department of Kinesiology and Physical Education, McGill University, Montreal, Quebec, Canada.
  • Lindqvist J; Department of Physiology and Pharmacology, Karolinska Institute, Stockholm, Sweden.
  • Stienen GJM; Department of Molecular and Cellular Biology and Molecular Cardiovascular Research Program, University of Arizona, Tucson, AZ.
  • Irving TC; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Ma W; Biophysics Collaborative Access Team, Center for Synchrotron Radiation Research and Instrumentation, and Department of Biological Sciences, Illinois Institute of Technology, Chicago, IL.
  • Yuen M; Biophysics Collaborative Access Team, Center for Synchrotron Radiation Research and Instrumentation, and Department of Biological Sciences, Illinois Institute of Technology, Chicago, IL.
  • Clarke NF; Department of Physiology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
  • Rassier DE; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Malfatti E; Discipline of Pediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
  • Romero NB; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Beggs AH; Discipline of Pediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
  • Ottenheijm CAC; Department of Kinesiology and Physical Education, McGill University, Montreal, Quebec, Canada.
Ann Neurol ; 83(2): 269-282, 2018 02.
Article in En | MEDLINE | ID: mdl-29328520
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Actins / Muscle Weakness / Myopathies, Structural, Congenital / Muscle Contraction Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: Netherlands
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sarcomeres / Actins / Muscle Weakness / Myopathies, Structural, Congenital / Muscle Contraction Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: Netherlands