换一批Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
第一作者：
Bell, Scott
作者：
Bell, Scott [1]
;
Rousseau, Justine [2]
;
Peng, Huashan [3]
;
Aouabed, Zahia [4]
;
Priam, Pierre [5]
;
Theroux, Jean-Francois [6]
;
Jefri, Malvin [7]
;
Tanti, Arnaud [8]
;
Wu, Hanrong [9]
;
Kolobova, Ilaria [10]
;
Silviera, Heika [11]
;
Manzano-Vargas, Karla [12]
;
Ehresmann, Sophie [13]
;
Hamdan, Fadi F. [14]
;
Hettige, Nuwan [15]
;
Zhang, Xin [16]
;
Antonyan, Lilit [17]
;
Nassif, Christina [18]
;
Ghaloul-Gonzalez, Lina [19]
;
Sebastian, Jessica [20]
;
Vockley, Jerry [21]
;
Begtrup, Amber G. [22]
;
Wentzensen, Ingrid M. [23]
;
Crunk, Amy [24]
;
Nicholls, Robert D. [25]
;
Herman, Kristin C. [26]
;
Deignan, Joshua L. [27]
;
Al-Hertani, Walla [28]
;
Efthymiou, Stephanie [29]
;
Salpietro, Vincenzo ;
Miyake, Noriko ;
Makita, Yoshio ;
Matsumoto, Naomichi ;
Ostern, Rune ;
Houge, Gunnar ;
Hafstrom, Maria ;
Fassi, Emily ;
Houlden, Henry ;
Wassink-Ruiter, Jolien S. Klein ;
Nelson, Dominic ;
Goldstein, Amy ;
Dabir, Tabib ;
van Gils, Julien ;
Bourgeron, Thomas ;
Delorme, Richard ;
Cooper, Gregory M. ;
Martinez, Jose E. ;
Finnila, Candice R. ;
Carmant, Lionel ;
Lortie, Anne ;
Oegema, Renske ;
van Gassen, Koen ;
Mehta, Sarju G. ;
Huhle, Dagmar ;
Abou Jamra, Rami ;
Martin, Sonja ;
Brunner, Han G. ;
Lindhout, Dick ;
Au, Margaret ;
Graham, John M., Jr. ;
Coubes, Christine ;
Turecki, Gustavo ;
Gravel, Simon ;
Mechawar, Naguib ;
Rossignol, Elsa ;
Michaud, Jacques L. ;
Lessard, Julie ;
Ernst, Carl ;
Campeau, Philippe M.
作者单位：
McGill Univ, Dept Human Genet, Montreal, PQ H3G 0B1, Canada
[1]
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA
[2]
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
[3]
Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA 15213 USA
[4]
UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England
[5]
GeneDx, Gaithersburg, MD USA
[6]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6500 GA
[7]
UPMC, Univ Pittsburgh, Div Med Genet, Dept Pediat,Childrens Hosp Pittsburgh, Pittsburgh, PA USA
[8]
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA
[9]
Univ Calif Davis, Med Ctr, Sect Med Genom, Sacramento, CA 95817 USA
[10]
CHU Montpellier, Ctr Reference Anomalies Dev & Syndromes Malformat, Dept Genet Med, Serv Genet Clin
[11]
Univ Montreal, IRIC, Montreal, PQ H3T 1J4, Canada
[12]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[13]
Cedars Sinai Med Ctr, Med Genet, Los Angeles, CA 90048 USA
[14]
Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway
[15]
Univ Paris Diderot, Inst Pasteur, Human Genet & Cognit Funct, UMR3571,CNRS, F-75015 Paris, France
[16]
Asahikawa Med Univ, Educ Ctr, Asahikawa, Hokkaido 0788510, Japan
[17]
Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands
[18]
Addenbrookes Hosp, Dept Clin Genet, Cambridge CB2 0QQ, England
[19]
Trondheim Reg & Univ Hosp, St Olavs Hosp, Dept Pediat, Postbox 3250, N-7006 Trondheim, Norway
[20]
Univ Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[21]
Univ Med Ctr Leipzig, Inst Human Genet, D-04103 Leipzig, Germany
[22]
McGill Univ, Douglas Hosp, Res Inst, Psychiat Genet Grp, Montreal, PQ H4H 1R3, Canada
[23]
Robert Debre Hosp, AP HP, Child & Adolescent Psychiat Dept, Paris, France
[24]
Childrens Rehabil Serv, Mobile, AL 36604 USA
[25]
Univ Montreal, Dept Neurol, Montreal, PQ, Canada
[26]
Univ Montreal, CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada
[27]
Alberta Childrens Prov Gen Hosp, Cumming Sch Med, Dept Med Genet, Calgary, AB T3B 6A8, Canada
[28]
Belfast City Hosp, Belfast Hlth & Social Care Trust, Northern Ireland Reg Genet Ctr, Lisburn Rd
[29]
发布时间
2020-03-10
- 浏览3
The American Journal of Human Genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
