Article
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain : a journal of neurology - 1 Aug 2023
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
Abstract excerpt
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder...