换一批KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
第一作者：
Cif, Laura
作者：
Cif, Laura [1]
;
Demailly, Diane [2]
;
Lin, Jean-Pierre [3]
;
Barwick, Katy E. [4]
;
Sa, Mario [5]
;
Abela, Lucia [6]
;
Malhotra, Sony [7]
;
Chong, Wui K. [8]
;
Steel, Dora [9]
;
Sanchis-Juan, Alba [10]
;
Ngoh, Adeline [11]
;
Trump, Natalie [12]
;
Meyer, Esther [13]
;
Vasques, Xavier [14]
;
Rankin, Julia [15]
;
Allain, Meredith W. [16]
;
Applegate, Carolyn D. [17]
;
Isfahani, Sanaz Attaripour [18]
;
Baleine, Julien [19]
;
Balint, Bettina [20]
;
Bassetti, Jennifer A. [21]
;
Baple, Emma L. [22]
;
Bhatia, Kailash P. [23]
;
Blanchet, Catherine [24]
;
Burglen, Lydie [25]
;
Cambonie, Gilles [26]
;
Seng, Emilie Chan [27]
;
Bastaraud, Sandra Chantot [28]
;
Cyprien, Fabienne [29]
;
Coubes, Christine [30]
;
D'Hardemare, Vincent [31]
;
Doja, Asif [32]
;
Dorison, Nathalie [33]
;
Doummar, Diane [34]
;
Dy-Hollins, Marisela E. [35]
;
Farrelly, Ellyn [36]
;
Fitzpatrick, David R. [37]
;
Fearon, Conor [38]
;
Fieg, Elizabeth L. [39]
;
Fogel, Brent L. [40]
;
Forman, Eva B. [41]
;
Fox, Rachel G. [42]
;
Gahl, William A. [43]
;
Galosi, Serena [44]
;
Gonzalez, Victoria [45]
;
Graves, Tracey D. [46]
;
Gregory, Allison [47]
;
Hallett, Mark [48]
;
Hasegawa, Harutomo [49]
;
Hayflick, Susan J. [50]
;
Hamosh, Ada [51]
;
Hully, Marie [52]
;
Jansen, Sandra [53]
;
Jeong, Suh Young [54]
;
Krier, Joel B. [55]
;
Krystal, Sidney [56]
;
Kumar, Kishore R. [57]
;
Laurencin, Chloe [58]
;
Lee, Hane [59]
;
Lesca, Gaetan ;
Francois, Laurence Lion ;
Lynch, Timothy ;
Mahant, Neil ;
Martinez-Agosto, Julian A. ;
Milesi, Christophe ;
Mills, Kelly A. ;
Mondain, Michel ;
Morales-Briceno, Hugo ;
Ostergaard, John R. ;
Pal, Swasti ;
Pallais, Juan C. ;
Pavillard, Frederique ;
Perrigault, Pierre-Francois ;
Petersen, Andrea K. ;
Polo, Gustavo ;
Poulen, Gaetan ;
Rinne, Tuula ;
Roujeau, Thomas ;
Rogers, Caleb ;
Roubertie, Agathe ;
Sahagian, Michelle ;
Schaefer, Elise ;
Selim, Laila ;
Selway, Richard ;
Sharma, Nutan ;
Signer, Rebecca ;
Soldatos, Ariane G. ;
Stevenson, David A. ;
Stewart, Fiona ;
Tchan, Michel ;
Verma, Ishwar C. ;
de Vries, Bert B. A. ;
Wilson, Jenny L. ;
Wong, Derek A. ;
Zaitoun, Raghda ;
Zhen, Dolly ;
Znaczko, Anna ;
Dale, Russell C. ;
de Gusmao, Claudio M. ;
Friedman, Jennifer ;
Fung, Victor S. C. ;
King, Mary D. ;
Mohammad, Shekeeb S. ;
Rohena, Luis ;
Waugh, Jeff L. ;
Toro, Camilo ;
Raymond, F. Lucy ;
Topf, Maya ;
Coubes, Philippe ;
Gorman, Kathleen M. ;
Kurian, Manju A.
作者单位：
Necker Enfants Malad, AP HP, Dept Neurol, Paris, France
[1]
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[2]
Cairo Univ, Pediat Neurol & Metab Div, Children Hosp, Cairo, Egypt
[3]
Westmead Hosp, Dept Neurol, Movement Disorders Unit, Westmead, NSW, Australia
[4]
Hop Univ Montpellier, Dept Neuropediat, Montpellier, France
[5]
Hop Univ Strasbourg, Med Genet, Strasbourg, France
[6]
Mater Misericordiae Univ Hosp, Dept Neurol, Dublin Neurol Inst, Dublin, Ireland
[7]
NHGRI, Undiagnosed Dis Program, NIH, Bethesda, MD 20892 USA
[8]
Belfast Hlth & Social Care Trust, Dept Genet Med, Belfast, Antrim, North Ireland
[9]
Aarhus Univ Hosp, Ctr Rare Dis, Aarhus, Denmark
[10]
Ctr Hosp Reg Montpellier, Dept Neurochirurg, Unite Pathol Cerebrales Resistantes,Hop Gui de Ch
[11]
Hop Univ Montpellier, Dept Otorhinolaryngol & Chirurg Cervicofaciale, Montpellier, France
[12]
Hop Neurol & Neurochirurg P Wertheimer, Dept Neurol, Lyon, France
[13]
Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Translat Genom Grp, Darlinghurst, NSW, Australia
[14]
Guys & St Thomas NHS Fdn Trust, Childrens Neurosci Dept, Evelina London Childrens Hosp, Complex
[15]
Hop Lyon Sud, Dept Pediatrie, Pierre Benite, France
[16]
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen
[17]
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
[18]
Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy
[19]
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA
[20]
Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia
[21]
Ctr Hosp Univ Montpellier, Dept Anesthesie Reanimat Gui de Chauliac, Montpellier, France
[22]
Oregon Hlth & Sci Univ, Dept Pediat, Div Pediat Neurol, 3181 Sw Sam Jackson Pk Rd, Portland, OR
[23]
Hop Fdn Rothschild, Unite Dyspa, Neurochirurg Pediat, Paris, France
[24]
Childrens Hlth Ireland, Dept Paediat Neurol & Clin Neurophysiol, Temple St, Dublin, Ireland
[25]
San Antonio Mil Med Ctr, Dept Pediat, Div Med Genet, San Antonio, TX USA
[26]
Rady Childrens Hosp San Diego, Div Neurol, San Diego, CA USA
[27]
Hop Univ Lyon, Dept Genet, Lyon, France
[28]
Hop Armand Trousseau, AP HP, Dept Genet Med, Paris, France
[29]
European IBM Syst Ctr, Montpellier, France
[30]
UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
[31]
Randall Childrens Hosp, Portland, OR USA
[32]
UCL Great Ormond St Inst Child Hlth, Dev Imaging & Biophys, London, England
[33]
North West Anglia NHS Fdn Trust, Hinchingbrooke Hosp, Dept Neurol, Huntingdon, England
[34]
Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA
[35]
Hop Neurol & Neurochirurg, Dept Neurochirurg Fonct, Lyon, France
[36]
Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA
[37]
Hop Fdn Rothschild, Dept Neuroradiol, Paris, France
[38]
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA
[39]
Royal Devon & Exeter NHS Fdn Trust, Clin Genet, Exeter, Devon, England
[40]
Stanford Univ, Dept Pediat, Div Med Genet, Palo Alto, CA 94304 USA
[41]
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
[42]
CHU Montpellier, Dept Genet Med, Malad Rares & Med Personnalisee, Montpellier, France
[43]
Hop Univ Montpellier, Unite Soins Intensifs & Reanimat Pediat & Neonata, Montpellier, France
[44]
Sorbonne Univ, Hop Armand Trousseau, AP HP,Neuropediat, Ctr Reference Neurogenet Mouvement Anormaux
[45]
Univ Edinburgh, Human Genet Unit, Western Gen Hosp, Med & Dev Genet, Edinburgh, Midlothian, Scotland
[46]
Univ London, Birkbeck Coll, Inst Struct & Mol Biol, Dept Biol Sci, London, England
[47]
NINDS, Human Motor Control Sect, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
[48]
Univ Texas Southwestern, Dept Pediat, Div Pediat Neurol, Dallas, TX USA
[49]
Sir Ganga Ram Hosp, Inst Genet & Genom, New Delhi, India
[50]
Childrens Hosp Westmead, Dept Paediat Neurol, Westmead, NSW, Australia
[51]
Kings Coll Hosp London, Dept Neurosurg, London, England
[52]
Ain Shams Univ Hosp, Dept Paediat, Neurol Div, Cairo, Egypt
[53]
Weill Cornell Med Coll, Dept Pediat, Div Med Genet, New York, NY USA
[54]
Childrens Hosp Eastern Ontario, Div Neurol, Ottawa, ON, Canada
[55]
Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
[56]
Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge, England
[57]
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Med Genet, Los Angeles, CA 90095 USA
[58]
UCL Great Ormond St Inst Child Hlth, Dev Neurosci, Mol Neurosci, London, England
[59]
发布时间
2022-03-02
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Brain
Brain
3242-3261页
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