Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Jan Senderek(Friedrich Baur Stiftung), Klaus Zerres(RWTH Aachen University), Nico Breitbach‐Faller(Klinikum Esslingen), Carsten Bergmann(University Medical Center Freiburg), Nicole I. Wolf(Emma Kinderziekenhuis), Joachim Weis(Universitätsklinikum Aachen), Friedrich Ebinger(Defence Research and Development Organisation), Thomas Voit(University College London), Astrid Blaschek(Ludwig-Maximilians-Universität München), Inga Harting(Heidelberg University), Janine Smith(Children's Hospital at Westmead), Michael J. B. Krieger(FH Aachen), Markus Moser(Technical University of Munich), Hanns Lochmüller(University of Ottawa), Francesco Muntoni(National Institute for Health and Care Research), Linda M. Hendershot(St. Jude Children's Research Hospital), Francis Renault(Hôpital Necker-Enfants Malades), Claudia Stendel(German Center for Neurodegenerative Diseases), Martin Brockington(Hammersmith Hospital), Sabine Rudnik‐Schöneborn(Innsbruck Medical University), Haluk Topaloğlu(Yeditepe University), Susana Quijano‐Roy(Inserm), Ralf Herrmann(Essen University Hospital), J. M. Schröder(Maastricht University), Kathryn N. North(The University of Melbourne)
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