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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

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第一作者: Saffari, Afshin
作者: Saffari, Afshin [1] ; Lau, Tracy [2] ; Tajsharghi, Homa [3] ; Karimiani, Ehsan Ghayoor [4] ; Kariminejad, Ariana [5] ; Efthymiou, Stephanie [6] ; Zifarelli, Giovanni [7] ; Sultan, Tipu [8] ; Toosi, Mehran Beiraghi [9] ; Sedighzadeh, Sahar [10] ; Siu, Victoria Mok [11] ; Dario Ortigoza-Escobar, Juan [12] ; AlShamsi, Aisha M. [13] ; Ibrahim, Shahnaz [14] ; Al-Sannaa, Nouriya Abbas [15] ; Al-Hertani, Walla [16] ; Sandra, Whalen [17] ; Tarnopolsky, Mark [18] ; Alavi, Shahryar [19] ; Li, Chumei [20] ; Day-Salvatore, Debra-Lynn [21] ; Jesus Martinez-Gonzalez, Maria [22] ; Levandoski, Kristin M. [23] ; Bedoukian, Emma [24] ; Madan-Khetarpal, Suneeta [25] ; Idleburg, Michaela J. [26] ; Menezes, Minal Juliet [27] ; Siddharth, Aishwarya [28] ; Platzer, Konrad [29] ; Oppermann, Henry [30] ; Smitka, Martin [31] ; Collins, Felicity [32] ; Lek, Monkol [33] ; Shahrooei, Mohmmad [34] ; Ghavideldarestani, Maryam [35] ; Herman, Isabella [36] ; Rendu, John [37] ; Faure, Julien [38] ; Baker, Janice [39] ; Bhambhani, Vikas [40] ; Calderwood, Laurel [41] ; Akhondian, Javad [42] ; Imannezhad, Shima [43] ; Mirzadeh, Hanieh Sadat [44] ; Hashemi, Narges [45] ; Doosti, Mohammad [46] ; Safi, Mojtaba [47] ; Ahangari, Najmeh [48] ; Torbati, Paria Najarzadeh [49] ; Abedini, Soheila [50] ; Salpietro, Vincenzo [51] ; Gulec, Elif Yilmaz [52] ; Eshaghian, Safieh [53] ; Ghazavi, Mohammadreza [54] ; Pascher, Michael T. [55] ; Vogel, Marina [56] ; Abicht, Angela [57] ; Moutton, Sebastien [58] ; Bruel, Ange-Line [59] ; Rieubland, Claudine [60] ; Gallati, Sabina [61] ; Strom, Tim M. [62] ; Lochmueller, Hanns [63] ; Mohammadi, Mohammad Hasan ; Alvi, Javeria Raza ; Zackai, Elaine H. ; Keena, Beth A. ; Skraban, Cara M. ; Berger, Seth, I ; Andrew, Erin H. ; Rahimian, Elham ; Morrow, Michelle M. ; Wentzensen, Ingrid M. ; Millan, Francisca ; Henderson, Lindsay B. ; Dafsari, Hormos Salimi ; Jungbluth, Heinz ; Gomez-Ospina, Natalia ; McRae, Anne ; Peter, Merlene ; Veltra, Danai ; Marinakis, Nikolaos M. ; Sofocleous, Christalena ; Ashrafzadeh, Farah ; Pehlivan, Davut ; Lemke, Johannes R. ; Melki, Judith ; Benezit, Audrey ; Bauer, Peter ; Weis, Denisa ; Lupski, James R. ; Senderek, Jan ; Christodoulou, John ; Chung, Wendy K. ; Goodchild, Rose ; Offiah, Amaka C. ; Moreno-De-Luca, Andres ; Suri, Mohnish ; Ebrahimi-Fakhari, Darius ; Houlden, Henry ; Maroofian, Reza
作者单位: University of London,UCL [1] Queen Sq Inst Neurol,UCL [2] Sch Hlth Sci,Univ Skovde [3] Mol & Clin Sci Inst,St Georges Univ London [4] Kariminejad Najmabadi Pathol & Genet Ctr [5] Div Genet & Genom Med,Childrens Hosp & Clin Minnesota [6] Lucile Packard Childrens Hosp Stanford [7] Ghaem Hosp,Mashhad Univ Med Sci [8] Fac Med,Mashhad Univ Med Sci [9] Sch Med,Mashhad Univ Med Sci [10] Dept Med Genet,Next Generat Genet Polyclin [11] Mashhad Branch,Islamic Azad Univ [12] Sch Med,Istanbul Medeniyet Univ [13] Dept Pediat,Baylor Coll Med [14] Isfahan Fertil & Infertil Ctr [15] Imam Hossein Childrens Hosp,Isfahan Univ Med Sci [16] INSERM,Univ Paris Saclay [17] AP HP,Hop Raymond Poincare [18] CENTOGENE GmbH [19] Kepler Univ Hosp,Johann Kepler Univ [20] Dept Mol & Human Genet,Baylor Coll Med [21] Univ Hosp,Ludwig Maximilians Univ Munchen [22] Sydney Med Sch,Univ Sydney [23] Dept Pediat & Med,Columbia Univ [24] Leuven Brain Inst,Katholieke Univ Leuven [25] Dept Oncol & Metab,Univ Sheffield [26] Autism & Dev Med Inst,Diagnost Med Inst [27] Clin Genet Serv,Nottingham Univ Hosp NHS Trust [28] Boston Childrens Hosp,Harvard Med Sch [29] Dept Biol Sci,Shahid Chamran Univ Ahvaz [30] Schulich Sch Med & Dent,Western Univ [31] Inst Recerca,Hosp St Joan de Deu Barcelona [32] Dept Pediat,Tawam Hosp [33] Dept Pediat & Child Hlth,Aga Khan Univ [34] Serv Pediat,John Hopkins Aramco Hlth Care [35] Hop Armand Trousseau,Sorbonne Univ [36] Dept Pediat MT Neuromuscular & Neurometab,McMaster Childrens Hosp [37] Dept Med Genet & Genom Med,St Peters Univ Hosp [38] Pediat Neurol Unit,Cruces Univ Hosp [39] Pole Mere Enfant,Multidisciplinary Ctr Prenatal Diag [40] Equipe Genet Anomalies Dev GAD,INSERM [41] Inselspital,Univ Bern [42] Klinikum Rechts Isar,Tech Univ Munich [43] Childrens Hosp Eastern Ontario,Univ Ottawa [44] Dept Pediat,Zabol Univ Med Sci [45] Dept Pediat Neurol,Childrens Hosp [46] Childrens Hosp Philadelphia,Univ Penn [47] Childrens Natl Res Inst [48] Haghighat Med Imaging Ctr Tehran [49] Dept Pediat,UPMC Childrens Hosp Pittsburgh [50] Dept Anaesthesia,Childrens Hosp Westmead [51] Med Ctr,Univ Leipzig [52] Med Fac Carl Gustav Carus,Tech Univ Dresden [53] Dept Genet,Yale Sch Med [54] Med Lab Dr Shahrooei [55] Roberts Individualized Med Genet Ctr,Childrens Hosp Philadelphia [56] CHU Grenoble Alpes,Univ Grenoble Alpes [57] GeneDx [58] Fac Med,Univ Cologne [59] Evelina London Childrens Hosp,Guys & St Thomas Hosp NHS Fdn Trust [60] Dept Pediat,Stanford Univ [61] Div Genet Genom & Metab,Ann & Robert H Lurie Childrens Hosp Chicago [62] St Sophias Childrens Hosp,Natl & Kapodistrian Univ Athens [63]
发布时间 2023-10-26
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Brain: A journal of neurology

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