Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Tobias B. Haack(Technical University of Munich), Michael G. Hanna(International Research Associates (United States)), Paolo Bernardi(University of Padua), Alessia Catania(Fondazione IRCCS Istituto Neurologico Carlo Besta), Annapurna Sudarsanam(Birmingham Women's Hospital), Sabine Grønborg(Copenhagen University Hospital), Julie Vogt(Birmingham Women's Hospital), Lotte Risom(Copenhagen University Hospital), Saskia B. Wortmann(Paracelsus Medical University), Mirjana Gušić(Helmholtz Zentrum München), Laura Vilarinho(National Institute of Health Dr. Ricardo Jorge), Julián A. Martínez-Agosto(University of California, Los Angeles), Stéphanie Efthymiou(Istituto Giannina Gaslini), Michela Di Nottia(Bambino Gesù Children's Hospital), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Alessandra Torraco(Bambino Gesù Children's Hospital), Angela Pyle(Wellcome Centre for Mitochondrial Research), David Murphy(National Hospital for Neurology and Neurosurgery), Farah Bibi(Pir Mehr Ali Shah Arid Agriculture University), Sami E.M. Mohammed(University of Veterinary Medicine Vienna), Costanza Lamperti(West Virginia University), Lucia Laugwitz(University Children's Hospital Tübingen), Diego Pérez‐Rodríguez(The Royal Free Hospital), Robert McFarland(Wellcome Centre for Mitochondrial Research), Holger Prokisch(Helmholtz Zentrum München), Enrico Bertini(Bambino Gesù Children's Hospital), Elsebet Østergaard(Copenhagen University Hospital), Renkui Bai, Romina Durigon(The Royal Free Hospital), Ahmad Alahmad(Kuwait Institute for Medical Specialization), Daniele Ghezzi(University of Milan), René G. Feichtinger(Paracelsus Medical University), Siegfried Reipert(University of Vienna), Andreea Manole(National Hospital for Neurology and Neurosurgery), Johannes A. Mayr(Paracelsus Medical University), Buthaina Albash(Kuwait Institute for Medical Specialization), Júlia Baptista(University of Exeter), Alejandro Horga(Hospital Clínico San Carlos), Marina Dutra‐Clarke(University of California, Los Angeles), Reza Maroofian(University of Exeter), Enrico Bugiardini, Diego Martinelli(Bambino Gesù Children's Hospital), Filippo Arrigoni(Don Carlo Gnocchi Foundation), Carlo Dionisi‐Vici(Bambino Gesù Children's Hospital), Katrina Allis, Amanda Lam(Great Ormond Street Hospital), Ralf A. Husain, Shahzad Haider(University of Wah), Alessandra Zulian(University of Padua)
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