An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta(University College London), Emma L. Baple(University of Exeter), Marie O’Donnell(Birmingham Women’s and Children’s NHS Foundation Trust), Anna C. Need(University of Pavia), Miguel Fernández-García(Guy's and St Thomas' NHS Foundation Trust), Nicholas J. Gutowski(Royal Devon & Exeter NHS Foundation Trust), Rauan Kaiyrzhanov(Tufts University), Mary M. Reilly(National Hospital for Neurology and Neurosurgery), Līvija Medne(Children's Hospital of Philadelphia), Andrea Orioli(University of Parma), Keivan Basiri(Isfahan University of Medical Sciences), Sarah Neuhaus(National Institutes of Health), Sandra Donkervoort(Government of the United States of America), Greg Elgar(Genomics England), Heinz Jungbluth(King's College London), Sahar Da’as(Hamad bin Khalifa University), Isabell Brusius(University of Cologne), Carlo Marcelis(Radboud University Nijmegen), Francisca Millan, Natalia Dominik(National Hospital for Neurology and Neurosurgery), Maryam Sedghi(Isfahan University of Medical Sciences), P. Marks(Birmingham Women’s and Children’s NHS Foundation Trust), Rita Barresi(Howard Hughes Medical Institute), Yaqun Zou(National Institutes of Health), Andrea H. Németh(National Health Service), Janice Yip(National Hospital for Neurology and Neurosurgery), Adam Giess(Jackson Laboratory), Zarazuela Zolkipli‐Cunningham(Children's Hospital of Philadelphia), Anna Sárközy(Great Ormond Street Hospital), Prabhu Arumugam(Jackson Laboratory), Behnaz Ansari(Isfahan University of Medical Sciences), Saskia Lassche(Radboud University Nijmegen), Tim Lavin(Salford Royal NHS Foundation Trust), Reza Maroofian(University College London), A. Reghan Foley(National Institutes of Health), Christian Beetz(Jena University Hospital), Marlen C. Lauffer(Leiden University Medical Center), Arianna Tucci(Genomics England), Francesco Muntoni(Great Ormond Street Hospital), Colleen Muraresku(Children's Hospital of Philadelphia), Matteo P. Ferla(Centre for Human Genetics), John C. Ambrose(Jackson Laboratory), Chiara Marini‐Bettolo(Newcastle upon Tyne Hospitals NHS Foundation Trust), Fiona Norwood(King's College Hospital), Mary O’Driscoll(Birmingham Women's Hospital), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), Gilbert Wunderlich(University Hospital Cologne), Ali‐Reza Moslemi(Sahlgrenska University Hospital), Andrea Cortese(University of Pavia)
Brain
November 13, 2020
Cited by 55


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