Research ArticleMUSCLE PHYSIOLOGY

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

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Science Translational Medicine  10 Jun 2020:
Vol. 12, Issue 547, eaaz3267
DOI: 10.1126/scitranslmed.aaz3267

Article Information

vol. 12 no. 547

PubMed: 
Print ISSN: 
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History: 
  • Received for publication August 30, 2019
  • Resubmitted December 9, 2019
  • Accepted for publication April 7, 2020
  • .

Author Information

  1. Anne-Kathrin Lutz1,*,
  2. Stefanie Pfaender1,*,
  3. Berra Incearap1,
  4. Valentin Ioannidis1,
  5. Ilaria Ottonelli1,
  6. Karl J. Föhr2,
  7. Judith Cammerer1,
  8. Marvin Zoller1,
  9. Julia Higelin1,
  10. Federica Giona3,4,
  11. Maximilian Stetter1,
  12. Nicole Stoecker1,
  13. Najwa Ouali Alami5,
  14. Michael Schön1,
  15. Michael Orth5,
  16. Stefan Liebau6,
  17. Gotthold Barbi7,
  18. Andreas M. Grabrucker8,9,10,
  19. Richard Delorme11,
  20. Michael Fauler12,
  21. Benjamin Mayer13,
  22. Sarah Jesse5,
  23. Francesco Roselli5,
  24. Albert C. Ludolph5,
  25. Thomas Bourgeron14,
  26. Chiara Verpelli3,4,
  27. Maria Demestre1, and
  28. Tobias M. Boeckers1,5,
  1. 1Institute for Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany.
  2. 2Department of Anesthesiology, Ulm University Hospital, 89081 Ulm, Germany.
  3. 3CNR Neuroscience Institute, University of Milan, 20129 Milan, Italy.
  4. 4BIOMETRA University of Milan, 20129 Milan, Italy.
  5. 5DZNE, Ulm Site, 89081 Ulm, Germany.
  6. 6Institute of Neuroanatomy and Developmental Biology, Eberhard Karls University Tübingen, 72074 Tübingen, Germany.
  7. 7Institute for Human Genetics, Ulm University Hospital, 89081 Ulm, Germany.
  8. 8Cellular Neurobiology and Neuro-Nanotechnology Lab, Department of Biological Sciences, University of Limerick, V94PH61 Limerick, Ireland.
  9. 9Bernal Institute, University of Limerick, V94T9PX Limerick, Ireland.
  10. 10Health Research Institute (HRI), University of Limerick, V94T9PX Limerick, Ireland.
  11. 11Child and Adolescent Psychiatry Department, APHP, Robert-Debré Hospital, 750197 Paris, France.
  12. 12Institute of General Physiology, Ulm University, 89081 Ulm, Germany.
  13. 13Institute of Epidemiology and Medical Biometry, Ulm University, 89075 Ulm, Germany.
  14. 14Génétique Humaine et Fonctions Cognitives, Université Paris Diderot, Institut Pasteur, 75015 Paris, France.
  1. Corresponding author. Email: mdemestre{at}ibecbarcelona.eu (M.D.); tobias.boeckers{at}uni-ulm.de (T.B.)
  • * These authors contributed equally to this work.

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