Showing 1–7 of 7 results
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Research | | Open
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
- Ekin Ucuncu
- , Karthyayani Rajamani
- , Miranda S. C. Wilson
- , Daniel Medina-Cano
- , Nami Altin
- , Pierre David
- , Giulia Barcia
- , Nathalie Lefort
- , Céline Banal
- , Marie-Thérèse Vasilache-Dangles
- , Gaële Pitelet
- , Elsa Lorino
- , Nathalie Rabasse
- , Eric Bieth
- , Maha S. Zaki
- , Meral Topcu
- , Fatma Mujgan Sonmez
- , Damir Musaev
- , Valentina Stanley
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Arnold Munnich
- , Nadia Bahi-Buisson
- , Catherine Fossoud
- , Fabienne Giuliano
- , Laurence Colleaux
- , Lydie Burglen
- , Joseph G. Gleeson
- , Nathalie Boddaert
- , Adolfo Saiardi
- & Vincent Cantagrel
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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
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Research | | Open
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Research | | Open
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
- Jennifer Friedman
- , Desiree E. Smith
- , Mahmoud Y. Issa
- , Valentina Stanley
- , Rengang Wang
- , Marisa I. Mendes
- , Meredith S. Wright
- , Kristen Wigby
- , Amber Hildreth
- , John R. Crawford
- , Alanna E. Koehler
- , Shimul Chowdhury
- , Shareef Nahas
- , Liting Zhai
- , Zhiwen Xu
- , Wing-Sze Lo
- , Kiely N. James
- , Damir Musaev
- , Andrea Accogli
- , Kether Guerrero
- , Luan T. Tran
- , Tarek E. I. Omar
- , Tawfeg Ben-Omran
- , David Dimmock
- , Stephen F. Kingsmore
- , Gajja S. Salomons
- , Maha S. Zaki
- , Geneviève Bernard
- & Joseph G. Gleeson
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Research |
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
- Ashleigh E. Schaffer
- , Martin W. Breuss
- , Ahmet Okay Caglayan
- , Nouriya Al-Sanaa
- , Hind Y. Al-Abdulwahed
- , Hande Kaymakçalan
- , Cahide Yılmaz
- , Maha S. Zaki
- , Rasim O. Rosti
- , Brett Copeland
- , Seung Tae Baek
- , Damir Musaev
- , Eric C. Scott
- , Tawfeg Ben-Omran
- , Ariana Kariminejad
- , Hulya Kayserili
- , Faezeh Mojahedi
- , Majdi Kara
- , Na Cai
- , Jennifer L. Silhavy
- , Seham Elsharif
- , Elif Fenercioglu
- , Bruce A. Barshop
- , Bulent Kara
- , Rengang Wang
- , Valentina Stanley
- , Kiely N. James
- , Rahul Nachnani
- , Aneesha Kalur
- , Hisham Megahed
- , Faruk Incecik
- , Sumita Danda
- , Yasemin Alanay
- , Eissa Faqeih
- , Gia Melikishvili
- , Lobna Mansour
- , Ian Miller
- , Biayna Sukhudyan
- , Jamel Chelly
- , William B. Dobyns
- , Kaya Bilguvar
- , Rami Abou Jamra
- , Murat Gunel
- & Joseph G. Gleeson
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Research | | Open
Biallelic variants in KIF14 cause intellectual disability with microcephaly
- Periklis Makrythanasis
- , Reza Maroofian
- , Asbjørg Stray-Pedersen
- , Damir Musaev
- , Maha S. Zaki
- , Iman G. Mahmoud
- , Laila Selim
- , Amera Elbadawy
- , Shalini N. Jhangiani
- , Zeynep H. Coban Akdemir
- , Tomasz Gambin
- , Hanne S. Sorte
- , Arvid Heiberg
- , Jennifer McEvoy-Venneri
- , Kiely N. James
- , Valentina Stanley
- , Denice Belandres
- , Michel Guipponi
- , Federico A. Santoni
- , Najmeh Ahangari
- , Fatemeh Tara
- , Mohammad Doosti
- , Justyna Iwaszkiewicz
- , Vincent Zoete
- , Paul Hoff Backe
- , Hanan Hamamy
- , Joseph G. Gleeson
- , James R. Lupski
- , Ehsan Ghayoor Karimiani
- & Stylianos E. Antonarakis
