第一单位：
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
作者：
Giovanna,Carpentieri [1]
;
Serena,Cecchetti [2]
;
Gianfranco,Bocchinfuso [3]
;
Francesca Clementina,Radio [4]
;
Chiara,Leoni [5]
;
Roberta,Onesimo [5]
;
Paolo,Calligari [3]
;
Agostina,Pietrantoni [6]
;
Andrea,Ciolfi [4]
;
Marco,Ferilli [4]
;
Cristina,Calderan [7]
;
Gerarda,Cappuccio [8]
;
Simone,Martinelli [9]
;
Elena,Messina [4]
;
Viviana,Caputo [10]
;
Ulrike,Hüffmeier [11]
;
Cyril,Mignot [12]
;
Stéphane,Auvin [13]
;
Yline,Capri [14]
;
Charles Marques,Lourenco [15]
;
Bianca E,Russell [16]
;
Ahna,Neustad [16]
;
Nicola,Brunetti Pierri [17]
;
Boris,Keren [12]
;
André,Reis [11]
;
Julie S,Cohen [18]
;
Alexis,Heidlebaugh [19]
;
Clay,Smith [18]
;
Christian T,Thiel [20]
;
Leonardo,Salviati [7]
;
Giuseppe,Zampino [21]
;
Philippe M,Campeau [22]
;
Lorenzo,Stella [3]
;
Marco,Tartaglia [23]
;
Elisabetta,Flex [24]
作者单位：
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
[1]
Confocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.
[2]
Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
[3]
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
[4]
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy.
[5]
Electron Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
[6]
Department of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy.
[7]
Department of Translational Medicine, "Federico II" University, 80131 Naples, Italy.
[8]
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
[9]
Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.
[10]
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
[11]
Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France.
[12]
Service de Neurologie Pediatrique, Hopital Universitaire Robert Debré, Université Paris Cité, 75935 Paris, France.
[13]
Department of Genetics, Robert-Debré University Hospital, Assistance Publique-Hopitaux de Paris, 75935 Paris, France.
[14]
Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto 14096-160, São Paulo, Brazil.
[15]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[16]
Department of Translational Medicine, "Federico II" University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
[17]
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
[18]
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
[19]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, 91054 Erlangen, Germany.
[20]
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy; Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 00168 Rome, Italy.
[21]
Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.
[22]
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
[23]
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address: elisabetta.flex@iss.it.
[24]
DOI
10.1016/j.xhgg.2024.100349
PMID
39210597
发布时间
2024-10-17
换一批
换一批
