换一批Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
第一作者：
Steel, Dora
作者：
Steel, Dora [1]
;
Zech, Michael [2]
;
Zhao, Chen [3]
;
Barwick, Katy E. S. [4]
;
Burke, Derek [5]
;
Demailly, Diane [6]
;
Kumar, Kishore R. [7]
;
Zorzi, Giovanna [8]
;
Nardocci, Nardo [9]
;
Kaiyrzhanov, Rauan [10]
;
Wagner, Matias [11]
;
Iuso, Arcangela [12]
;
Berutti, Riccardo [13]
;
Skorvanek, Matej [14]
;
Necpal, Jan [15]
;
Davis, Ryan [16]
;
Wiethoff, Sarah [17]
;
Mankad, Kshitij [18]
;
Sudhakar, Sniya [19]
;
Ferrini, Arianna [20]
;
Sharma, Suvasini [21]
;
Kamsteeg, Erik-Jan [22]
;
Tijssen, Marina A. [23]
;
Verschuuren, Corien [24]
;
van Egmond, Martje E. [25]
;
Flowers, Joanna M. [26]
;
McEntagart, Meriel [27]
;
Tucci, Arianna [28]
;
Coubes, Philippe [29]
;
Bustos, Bernabe I. [30]
;
Gonzalez-Latapi, Paulina [31]
;
Tisch, Stephen [32]
;
Darveniza, Paul [33]
;
Gorman, Kathleen M. ;
Peall, Kathryn J. ;
Boetzel, Kai ;
Koch, Jan C. ;
Kmiec, Tomasz ;
Plecko, Barbara ;
Boesch, Sylvia ;
Haslinger, Bernhard ;
Jech, Robert ;
Garavaglia, Barbara ;
Wood, Nick ;
Houlden, Henry ;
Gissen, Paul ;
Lubbe, Steven J. ;
Sue, Carolyn M. ;
Cif, Laura ;
Mencacci, Niccolo E. ;
Anderson, Glenn ;
Kurian, Manju A. ;
Winkelmann, Juliane
作者单位：
Great Ormond St Hosp Sick Children, Enzyme Lab, London, England
[1]
Safarik Univ, Dept Neurol, Kosice, Slovakia
[2]
Tech Univ Munich, Klin & Poliklin Neurol, Klinikum Rechts Isar, Munich, Germany
[3]
Ludwig Maximilians Univ Munchen, Dept Neurol, Munich, Germany
[4]
UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England
[5]
Med Univ Graz, Div Gen Pediat, Dept Pediat & Adolescent Med, Graz, Austria
[6]
St George Hosp, Dept Clin Genet, London, England
[7]
Childrens Hlth Ireland, Dept Neurol & Clin Neurophysiol, Temple, TX, Ireland
[8]
Univ Sydney, Kolling Inst Med Res, Dept Neurogenet, Sydney, NSW, Australia
[9]
Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria
[10]
Tech Univ Munich, Inst Human Genet, Munich, Germany
[11]
UCL Queen Sq Inst Neurol, London, England
[12]
Univ Med Ctr Gottingen, Dept Neurol, Gottingen, Germany
[13]
Univ Med Ctr Groningen, Expertise Ctr Movement Disorders Groningen, Groningen, Netherlands
[14]
Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany
[15]
Univ Cardiff, Cardiff, Wales
[16]
UCL Great Ormond St Inst Child Hlth, Dept Dev Neurosci, London, England
[17]
Fdn IRCCS Ist Neurol Carlo Besta, Dept Child Neurol, Milan, Italy
[18]
St George Hosp, Dept Neurol, London, England
[19]
Genom England, London, England
[20]
Great Ormond St Hosp Sick Children, Dept Histopathol, London, England
[21]
Ctr Hosp Univ, Dept Neurochirurg, Unites Pathol Cerebrales Resistantes, Montpellier, France
[22]
Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands
[23]
Great Ormond St Hosp Sick Children, Dept Radiol, London, England
[24]
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic
[25]
UCL, Dept Neuromuscular Dis, Inst Neurol, Queen Sq, London, England
[26]
Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands
[27]
Northwestern Univ Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL USA
[28]
Lady Hardinge Med Coll & Associated Kalawati Sara, Div Neurol, Dept Pediat, New Delhi, India
[29]
Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Warsaw, Poland
[30]
St Vincents Hosp, Dept Neurol, Sydney, NSW, Australia
[31]
Zvolen Hosp, Dept Neurol, Zvolen, Slovakia
[32]
Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany
[33]
发布时间
2021-07-24
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Annals of neurology
Annals of neurology
867-877页
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