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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

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作者单位: King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia [1] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA [2] Univ Bern, Inselspital, Div Neuropaediat Dev & Rehabil, Bern, Switzerland [3] Duke Univ, Med Ctr, Ctr Stat Genet & Genom, Durham, NC USA [4] PSL Res Univ, CNRS, Inst Curie, UMR 3348, Orsay, France [5] Ludwig Maximilians Univ Munchen, Univ Hosp, Friedrich Baur Inst, Dept Neurol, Munich, Germany [6] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA [7] Boston Childrens Hosp, Dept Neurol, Boston, MA USA [8] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany [9] Univ Toronto, Hosp Sick Children, Dept Diagnost Imaging, Toronto, ON, Canada [10] GeneDx, Gaithersburg, MD USA [11] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA [12] Duke Univ, Med Ctr, Dept Pediat, Div Neurol, Durham, NC 27710 USA [13] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bldg 36,Rm 4D04 [14] Univ Hosp Wurzburg, Dev Neurobiol, Dept Neurol, Wurzburg, Germany [15] Ist Giannina Gaslini, IRCCS, Genoa, Italy [16] King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pediat, Genet Div, Riyadh [17] Univ Calif San Diego, Howard Hughes Med Inst, Lab Pediat Brain Dis, San Diego, CA 92103 USA [18] Univ Hosp Bristol NHS Fdn Trust, St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England [19] KAUST, CBRC, Div Biol & Environm Sci & Engn BESE, Thuwal, Saudi Arabia [20] Karolinska Inst, Dept Neurosci, Stockholm, Sweden [21] Qassim Univ, Coll Med, Dept Pediat, Qasim, Saudi Arabia [22] Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France [23] Radboud Univ Nijmegen, Med Ctr, Donders Ctr Brain Cognit & Behav, Dept Human Genet, Nijmegen [24] Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria [25] Al Jalila Childrens Hosp, Neurosci Ctr, Dubai, U Arab Emirates [26] Inselspital Bern, Univ Dept Neurol, Neuromuscular Ctr, Bern, Switzerland [27] Duke Univ, Med Ctr, Dept Radiol, Div Neuroradiol, Durham, NC 27710 USA [28] Grande Osped Metropolitano Niguarda, Milan, Italy [29] Natl Res Ctr, Human Genet & Genome Res Div, Clin Genet Dept, Cairo, Egypt [30] Columbia Univ, Inst Genom Med, New York, NY USA [31]
发布时间 2020-04-02
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The EMBO journal.

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