The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
常染色体隐性遗传TOR1A相关疾病的临床和遗传谱
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awad039
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M; Lochmüller, Hanns; 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