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(Duke University), Miguel Fernández-García(Guy's and St Thomas' NHS Foundation Trust), Nicholas J. Gutowski(Royal Devon & Exeter NHS Foundation Trust), Rauan Kaiyrzhanov(National Hospital for Neurology and Neurosurgery), Mary M. Reilly(University College London), 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(National Institutes of Health), Greg Elgar(Medical Research Council), 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(University College London), 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(University of Oxford), Janice Yip(National Hospital for Neurology and Neurosurgery), Adam Giess(Jackson Laboratory), Zarazuela Zolkipli‐Cunningham(Children's Hospital of Philadelphia), Anna Sárközy(University College London), 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 of Exeter), 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(National Hospital for Neurology and Neurosurgery)
Brain
November 13, 2020
Cited by 55


Related Papers