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

Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E. G., Kariminejad, A., Efthymiou, S., Zifarelli, G., Sultan, T., Toosi, M. B., Sedighzadeh, S., Siu, V. M., Ortigoza-Escobar, J. D., AlShamsi, A. M., Ibrahim, S., Al-Sannaa, N. A., Al-Hertani, W., Sandra, W., Tarnopolsky, M., Alavi, S., … Maroofian, R. (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273–3288. https://doi.org/10.1093/brain/awad039
Authors:
Afshin Saffari
Tracy Lau
Homa Tajsharghi
Ehsan Ghayoor Karimiani
Ariana Kariminejad
Stephanie Efthymiou
Giovanni Zifarelli
Tipu Sultan
Mehran Beiraghi Toosi
Sahar Sedighzadeh
Victoria Mok Siu
Juan Darío Ortigoza-Escobar
Aisha M AlShamsi
Shahnaz Ibrahim
Nouriya Abbas Al-Sannaa
Walla Al-Hertani
Whalen Sandra
Mark Tarnopolsky
Shahryar Alavi
Chumei Li
Debra-Lynn Day-Salvatore
Maria Jesús Martínez-González
Kristin M Levandoski
Emma Bedoukian
Suneeta Madan-Khetarpal
Michaela J Idleburg
Minal Juliet Menezes
Aishwarya Siddharth
Konrad Platzer
Henry Oppermann
Martin Smitka
Felicity Collins
Monkol Lek
Mohmmad Shahrooei
Maryam Ghavideldarestani
Isabella Herman
John Rendu
Julien Faure
Janice Baker
Vikas Bhambhani
Laurel Calderwood
Javad Akhondian
Shima Imannezhad
Hanieh Sadat Mirzadeh
Narges Hashemi
Mohammad Doosti
Mojtaba Safi
Najmeh Ahangari
Paria Najarzadeh Torbati
Soheila Abedini
Vincenzo Salpietro
Elif Yilmaz Gulec
Safieh Eshaghian
Mohammadreza Ghazavi
Michael T Pascher
Marina Vogel
Angela Abicht
Sébastien Moutton
Ange-Line Bruel
Claudine Rieubland
Sabina Gallati
Tim M Strom
Hanns Lochmüller
Mohammad Hasan Mohammadi
Javeria Raza Alvi
Elaine H Zackai
Beth A Keena
Cara M Skraban
Seth I Berger
Erin H Andrew
Elham Rahimian
Michelle M Morrow
Ingrid M Wentzensen
Francisca Millan
Lindsay B Henderson
Hormos Salimi Dafsari
Heinz Jungbluth
Natalia Gomez-Ospina
Anne McRae
Merlene Peter
Danai Veltra
Nikolaos M Marinakis
Christalena Sofocleous
Farah Ashrafzadeh
Davut Pehlivan
Johannes R Lemke
Judith Melki
Audrey Benezit
Peter Bauer
Denisa Weis
James R Lupski
Jan Senderek
John Christodoulou
Wendy K Chung
Rose Goodchild
Amaka C Offiah
Andres Moreno-De-Luca
Mohnish Suri
Darius Ebrahimi-Fakhari
Henry Houlden
Reza Maroofian
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Dystonia (MeSH)
Dystonic Disorders (MeSH)
Nervous System Malformations (MeSH)
Author Keywords:
amc5
ndd
torsin-1a
arthrogryposis multiplex congenita 5
biallelic variation
elink
Publication Type:
Article
Unique ID:
10.1093/brain/awad039
PMID:
36757831
DOI:
10.1093/brain/awad039
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: