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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

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第一作者: Palmer, Elizabeth E.
作者: Palmer, Elizabeth E. [1] ; Pusch, Michael [2] ; Picollo, Alessandra [3] ; Forwood, Caitlin [4] ; Nguyen, Matthew H. [5] ; Suckow, Vanessa [6] ; Gibbons, Jessica [7] ; Hoff, Alva [8] ; Sigfrid, Lisa [9] ; Megarbane, Andre [10] ; Nizon, Mathilde [11] ; Cogne, Benjamin [12] ; Beneteau, Claire [13] ; Alkuraya, Fowzan S. [14] ; Chedrawi, Aziza [15] ; Hashem, Mais O. [16] ; Stamberger, Hannah [17] ; Weckhuysen, Sarah [18] ; Vanlander, Arnaud [19] ; Ceulemans, Berten [20] ; Rajagopalan, Sulekha [21] ; Nunn, Kenneth [22] ; Arpin, Stephanie [23] ; Raynaud, Martine [24] ; Motter, Constance S. [25] ; Ward-Melver, Catherine [26] ; Janssens, Katrien [27] ; Meuwissen, Marije [28] ; Beysen, Diane [29] ; Dikow, Nicola [30] ; Grimmel, Mona [31] ; Haack, Tobias B. [32] ; Clement, Emma [33] ; McTague, Amy [34] ; Hunt, David [35] ; Townshend, Sharron [36] ; Ward, Michelle [37] ; Richards, Linda J. [38] ; Simons, Cas [39] ; Costain, Gregory [40] ; Dupuis, Lucie [41] ; Mendoza-Londono, Roberto [42] ; Dudding-Byth, Tracy [43] ; Boyle, Jackie [44] ; Saunders, Carol [45] ; Fleming, Emily [46] ; El Chehadeh, Salima [47] ; Spitz, Marie-Aude [48] ; Piton, Amelie [49] ; Gerard, Benedicte [50] ; Warde, Marie-Therese Abi [51] ; Rea, Gillian [52] ; McKenna, Caoimhe [53] ; Douzgou, Sofia [54] ; Banka, Siddharth [55] ; Akman, Cigdem [56] ; Bain, Jennifer M. [57] ; Sands, Tristan T. [58] ; Wilson, Golder N. [59] ; Silvertooth, Erin J. [60] ; Miller, Lauren [61] ; Lederer, Damien [62] ; Sachdev, Rani ; Macintosh, Rebecca ; Monestier, Olivier ; Karadurmus, Deniz ; Collins, Felicity ; Carter, Melissa ; Rohena, Luis ; Willemsen, Marjolein H. ; Ockeloen, Charlotte W. ; Pfundt, Rolph ; Kroft, Sanne D. ; Field, Michael ; Laranjeira, Francisco E. R. ; Fortuna, Ana M. ; Soares, Ana R. ; Michaud, Vincent ; Naudion, Sophie ; Golla, Sailaja ; Weaver, David D. ; Bird, Lynne M. ; Friedman, Jennifer ; Clowes, Virginia ; Joss, Shelagh ; Polsler, Laura ; Campeau, Philippe M. ; Blazo, Maria ; Bijlsma, Emilia K. ; Rosenfeld, Jill A. ; Beetz, Christian ; Powis, Zoe ; McWalter, Kirsty ; Brandt, Tracy ; Torti, Erin ; Mathot, Mikael ; Mohammad, Shekeeb S. ; Armstrong, Ruth ; Kalscheuer, Vera M.
作者单位: Sch Med & Biomed Sci,Univ Porto [1] Serv Genet Med,CHU Bordeaux [2] Child Neurol & Neurodev Med Thompson Autism Ctr,CHOC Hosp [3] Indiana Univ Sch Med [4] Rady Childrens Hosp San Diego,Univ Calif San Diego [5] North West Thames Reg Genet Serv,London North West Univ Healthcare NHS Trust [6] West Scotland Ctr Gen Med,Queen Elizabeth Univ Hosp [7] Vrije Univ Brussel VUB,Univ Ziekenhuis Brussel [8] CHU St Justine Res Ctr,Univ Montreal [9] Div Clin Genet,Texas A&M Univ [10] Dept Clin Genet,Leiden Univ Med Ctr [11] Mol & Human Genet,Baylor Coll Med [12] Centogene GmbH [13] Clin Genom,Ambry Genet [14] GeneDx LLC [15] Neuropediat Unit,CHU UCL Namur [16] Sydney Childrens Hosp Network,Childrens Hosp Westmead [17] Addenbrookes Treatment Ctr,Addenbrookes Hosp [18] Grp Dev & Dis,Max Planck Inst Mol Genet [19] Ctr Clin Genet,Sydney Childrens Hosp Network [20] Consiglio Nazionale delle Ricerche (CNR),CNR [21] University of New South Wales Sydney,Univ New South Wales [22] Gilbert & Rose Marie Chagoury Sch Med,Lebanese Amer Univ [23] Serv Genet Med,Nantes Univ [24] Ctr Genom Med,King Faisal Specialist Hosp & Res Ctr [25] Dept Neurosci,King Faisal Specialist Hosp & Res Ctr [26] VIB Ctr Mol Neurol,VIB [27] Dept Child Neurol & Metab,Ghent Univ Hosp [28] Antwerp Univ Hosp,Univ Antwerp [29] Max Planck Society,Max Planck Inst Mol Genet [30] Serv Genet Clin,Ctr Hosp Reg Univ Tours [31] Genet Ctr,Akron Childrens Hosp [32] Ctr Med Genet,Univ Antwerp [33] Dept Pediat Neurol,Univ Antwerp [34] Inst Human Genet,Heidelberg Univ [35] Inst Med Genet & Appl Genom,Univ Tubingen [36] Dept Clin Genet,Great Ormond St Hosp Sick Children [37] Dev Neurosci,UCL Great Ormond St Inst Child Hlth [38] Wessex Clin Genet Serv,Princess Anne Hosp [39] Genet Serv WA,King Edward Mem Hosp [40] Dept Neurosci,Washington Univ [41] Div Clin & Metab Genet,Hosp Sick Children [42] Genet Learning Disabil Serv [43] Dept Pathol & Lab Med,Childrens Mercy Hosp & Clin [44] Div Clin Genet,Childrens Mercy Hosp & Clin [45] Inst Genet Med Alsace IGMA,Hop Univ Strasbourg [46] Serv Pediat,Hop Univ Strasbourg [47] Northern Ireland Reg Genet Serv [48] Dept Med Genet,Haukeland Hosp [49] Fac Biol Med & Hlth,Univ Manchester [50] Ctr Populat Genom,Murdoch Childrens Res Inst [51] Dept Neurol,Columbia Univ [52] Texas Tech Hlth Sci Ctr Lubbock [53] Texas Sports Psychiat & Integrat Hlth [54] Ctr Genet Humaine,Inst Pathol & Genet ASBL [55] Dept Med Genom Genet Med,Royal Prince Alfred Hosp [56] Dept Genet,Childrens Hosp Eastern Ontario [57] Dept Pediat,San Antonio Mil Med Ctr [58] Dept Human Genet,Radboud Univ Nijmegen Med Ctr [59] Residential Care Setting,Pluryn [60] Ctr Genet Med Jacinto Magalhaes,Ctr Hosp Univ Porto [61] Hillcrest Internal Med [62]
发布时间 2023-09-09
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