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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu Yang
- , Martin W. Breuss
- , Neda Mazaheri
- , Laila Selim
- , Fatemeh Hadipour
- , Lynn Pais
- , Chloe A. Stutterd
- , Vasiliki Karageorgou
- , Amber Begtrup
- , Amy Crunk
- , Jane Juusola
- , Rebecca Willaert
- , Leigh A. Flore
- , Kelly Kennelly
- , Christopher Spencer
- , Martha Brown
- , Pamela Trapane
- , Anna C. E. Hurst
- , S. Lane Rutledge
- , Dana H. Goodloe
- , Marie T. McDonald
- , Vandana Shashi
- , Kelly Schoch
- , Hoda Tomoum
- , Raghda Zaitoun
- , Zahra Hadipour
- , Hamid Galehdari
- , Alistair T. Pagnamenta
- , Majid Mojarrad
- , Alireza Sedaghat
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Research |
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
- Shereen G. Ghosh
- , Sangmoon Lee
- , Rudy Fabunan
- , Guoliang Chai
- , Maha S. Zaki
- , Ghada Abdel-Salam
- , Tipu Sultan
- , Tawfeg Ben-Omran
- , Javeria Raza Alvi
- , Jennifer McEvoy-Venneri
- , Valentina Stanley
- , Aakash Patel
- , Danica Ross
- , Jeffrey Ding
- , Mohit Jain
- , Daqiang Pan
- , Philipp Lübbert
- , Bernd Kammerer
- , Nils Wiedemann
- , Nanda M. Verhoeven-Duif
- , Judith J. Jans
- , David Murphy
- , Mehran Beiraghi Toosi
- , Farah Ashrafzadeh
- , Shima Imannezhad
- , Ehsan Ghayoor Karimiani
- , Khalid Ibrahim
- , Elizabeth R. Waters
- , Reza Maroofian
- & Joseph G. Gleeson
