Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy

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.

doi:10.1002/ana.25144

Title: Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1 -related nemaline myopathy (NEM3): ACTA1 -Related Myopathy

Journal Article · Thu Feb 01 00:00:00 EST 2018 · Annals of Neurology

DOI:https://doi.org/10.1002/ana.25144· OSTI ID:1424758

Joureau, Barbara ^[1]; de Winter, Josine Marieke ^[1]; Conijn, Stefan ^[1]; Bogaards, Sylvia J. P. ^[1]; Kovacevic, Igor ^[1]; Kalganov, Albert ^[2]; Persson, Malin ^[3]; Lindqvist, Johan ^[4];

^[1]; Irving, Thomas C. ^[5]; Ma, Weikang ^[5]; Yuen, Michaela ^[6]; Clarke, Nigel F. ^[7];

^[2]; Malfatti, Edoardo ^[8]; Romero, Norma B. ^[8];

^[9]; Ottenheijm, Coen A. C. ^[10]

Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands
Department of Kinesiology and Physical Education, McGill University, Montreal Quebec Canada
Department of Kinesiology and Physical Education, McGill University, Montreal Quebec Canada; Department of Physiology and Pharmacology, Karolinska Institute, Stockholm Sweden
Department of Molecular and Cellular Biology and Molecular Cardiovascular Research Program, University of Arizona, Tucson AZ
Biophysics Collaborative Access Team, Center for Synchrotron Radiation Research and Instrumentation, and Department of Biological Sciences, Illinois Institute of Technology, Chicago IL
Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands; Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead New South Wales Australia; Discipline of Pediatrics and Child Health, University of Sydney, Sydney New South Wales Australia
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead New South Wales Australia; Discipline of Pediatrics and Child Health, University of Sydney, Sydney New South Wales Australia
Pierre and Marie Curie University/University of Paris VI, Sorbonne Universities, National Institute of Health and Medical Research UMRS974, National Center for Scientific Research FRE3617, Center for Research in Myology, Pitié-Salpêtrière Hospital Group, Paris France
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston MA
Department of Physiology, VU University Medical Center Amsterdam, Amsterdam the Netherlands; Department of Molecular and Cellular Biology and Molecular Cardiovascular Research Program, University of Arizona, Tucson AZ

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Research Organization:: Argonne National Lab. (ANL), Argonne, IL (United States). Advanced Photon Source (APS)

Sponsoring Organization:: USDOE Office of Science (SC)

OSTI ID:: 1424758

Journal Information:: Annals of Neurology, Vol. 83, Issue 2; ISSN 0364-5134

Country of Publication:: United States

Language:: ENGLISH

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