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Showing 1–23 of 23 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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Reviews | | Open
International consensus recommendations on the diagnostic work-up for malformations of cortical development
- Renske Oegema
- , Tahsin Stefan Barakat
- , Martina Wilke
- , Katrien Stouffs
- , Dina Amrom
- , Eleonora Aronica
- , Nadia Bahi-Buisson
- , Valerio Conti
- , Andrew E. Fry
- , Tobias Geis
- , David Gomez Andres
- , Elena Parrini
- , Ivana Pogledic
- , Edith Said
- , Doriette Soler
- , Luis M. Valor
- , Maha S. Zaki
- , Ghayda Mirzaa
- , William B. Dobyns
- , Orly Reiner
- , Renzo Guerrini
- , Daniela T. Pilz
- , Ute Hehr
- , Richard J. Leventer
- , Anna C. Jansen
- , Grazia M. S. Mancini
- & Nataliya Di Donato
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Research |
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Research |
Genomic and phenotypic delineation of congenital microcephaly
- Ranad Shaheen
- , Sateesh Maddirevula
- , Nour Ewida
- , Saud Alsahli
- , Ghada M. H. Abdel-Salam
- , Maha S. Zaki
- , Saeed Al Tala
- , Amal Alhashem
- , Ameen Softah
- , Mohammed Al-Owain
- , Anas M. Alazami
- , Basma Abadel
- , Nisha Patel
- , Tarfa Al-Sheddi
- , Rana Alomar
- , Eman Alobeid
- , Niema Ibrahim
- , Mais Hashem
- , Firdous Abdulwahab
- , Muddathir Hamad
- , Brahim Tabarki
- , Ali H. Alwadei
- , Fahad Alhazzani
- , Fahad A. Bashiri
- , Amal Kentab
- , Serdar Şahintürk
- , Elliott Sherr
- , Brieana Fregeau
- , Samira Sogati
- , Saad Ali M. Alshahwan
- , Salwa Alkhalifi
- , Zainab Alhumaidi
- , Samia Temtamy
- , Mona Aglan
- , Ghada Otaify
- , Katta M. Girisha
- , Maha Tulbah
- , Mohammed Zain Seidahmed
- , Mustafa A. Salih
- , Mohamed Abouelhoda
- , Afaque A. Momin
- , Muna Al Saffar
- , Jennifer N. Partlow
- , Stefan T. Arold
- , Eissa Faqeih
- , Christopher Walsh
- & Fowzan S. Alkuraya
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Research |
Expanding the phenome and variome of skeletal dysplasia
- Sateesh Maddirevula
- , Saud Alsahli
- , Lamees Alhabeeb
- , Nisha Patel
- , Fatema Alzahrani
- , Hanan E Shamseldin
- , Shams Anazi
- , Nour Ewida
- , Hessa S Alsaif
- , Jawahir Y Mohamed
- , Anas M Alazami
- , Niema Ibrahim
- , Firdous Abdulwahab
- , Mais Hashem
- , Mohamed Abouelhoda
- , Dorota Monies
- , Nada Al Tassan
- , Muneera Alshammari
- , Afaf Alsagheir
- , Mohammed Zain Seidahmed
- , Samira Sogati
- , Mona S Aglan
- , Muddathir H Hamad
- , Mustafa A Salih
- , Ahlam A Hamed
- , Nadia Alhashmi
- , Amira Nabil
- , Fatima Alfadli
- , Ghada M H Abdel-Salam
- , Hisham Alkuraya
- , Winnie Ong Peitee
- , W T Keng
- , Abdullah Qasem
- , Aziza M Mushiba
- , Maha S Zaki
- , Mahmoud R Fassad
- , Majid Alfadhel
- , Saji Alexander
- , Yasser Sabr
- , Samia Temtamy
- , Alka V Ekbote
- , Samira Ismail
- , Gamal Ahmed Hosny
- , Ghada A Otaify
- , Khalda Amr
- , Saeed Al Tala
- , Arif O Khan
- , Tamer Rizk
- , Aida Alaqeel
- , Abdulmonem Alsiddiky
- , Ankur Singh
- , Seema Kapoor
- , Amal Alhashem
- , Eissa Faqeih
- , Ranad Shaheen
- & Fowzan S Alkuraya
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Research |
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Research | | Open
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
- Michael E. Coulter
- , Damir Musaev
- , Ellen M. DeGennaro
- , Xiaochang Zhang
- , Katrin Henke
- , Kiely N. James
- , Richard S. Smith
- , R. Sean Hill
- , Jennifer N. Partlow
- , Muna Al-Saffar
- , A. Stacy Kamumbu
- , Nicole Hatem
- , A. James Barkovich
- , Jacqueline Aziza
- , Nicolas Chassaing
- , Maha S. Zaki
- , Tipu Sultan
- , Lydie Burglen
- , Anna Rajab
- , Lihadh Al-Gazali
- , Ganeshwaran H. Mochida
- , Matthew P. Harris
- , Joseph G. Gleeson
- & Christopher A. Walsh
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Research |
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
- Lorena Travaglini
- , Francesco Brancati
- , Jennifer Silhavy
- , Miriam Iannicelli
- , Elizabeth Nickerson
- , Nadia Elkhartoufi
- , Eric Scott
- , Emily Spencer
- , Stacey Gabriel
- , Sophie Thomas
- , Bruria Ben-Zeev
- , Enrico Bertini
- , Eugen Boltshauser
- , Malika Chaouch
- , Maria Roberta Cilio
- , Mirjam M de Jong
- , Hulya Kayserili
- , Gonul Ogur
- , Andrea Poretti
- , Sabrina Signorini
- , Graziella Uziel
- , Maha S Zaki
- , Colin Johnson
- , Tania Attié-Bitach
- , Joseph G Gleeson
- & Enza Maria Valente
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Research |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
- Stephanie L Bielas
- , Jennifer L Silhavy
- , Francesco Brancati
- , Marina V Kisseleva
- , Lihadh Al-Gazali
- , Laszlo Sztriha
- , Riad A Bayoumi
- , Maha S Zaki
- , Alice Abdel-Aleem
- , Rasim Ozgur Rosti
- , Hulya Kayserili
- , Dominika Swistun
- , Lesley C Scott
- , Enrico Bertini
- , Eugen Boltshauser
- , Elisa Fazzi
- , Lorena Travaglini
- , Seth J Field
- , Stephanie Gayral
- , Monique Jacoby
- , Stephane Schurmans
- , Bruno Dallapiccola
- , Philip W Majerus
- , Enza Maria Valente
- & Joseph G Gleeson
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Research | | Open
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro
- , Christine L. Dixon
- , Hui Guo
- , Oscar D. Bello
- , Jana Vandrovcova
- , Stephanie Efthymiou
- , Reza Maroofian
- , Gali Heimer
- , Lydie Burglen
- , Stephanie Valence
- , Erin Torti
- , Moritz Hacke
- , Julia Rankin
- , Huma Tariq
- , Estelle Colin
- , Vincent Procaccio
- , Pasquale Striano
- , Kshitij Mankad
- , Andreas Lieb
- , Sharon Chen
- , Laura Pisani
- , Conceicao Bettencourt
- , Roope Männikkö
- , Andreea Manole
- , Alfredo Brusco
- , Enrico Grosso
- , Giovanni Battista Ferrero
- , Judith Armstrong-Moron
- , Sophie Gueden
- , Omer Bar-Yosef
- , Michal Tzadok
- , Kristin G. Monaghan
- , Teresa Santiago-Sim
- , Richard E. Person
- , Megan T. Cho
- , Rebecca Willaert
- , Yongjin Yoo
- , Jong-Hee Chae
- , Yingting Quan
- , Huidan Wu
- , Tianyun Wang
- , Raphael A. Bernier
- , Kun Xia
- , Alyssa Blesson
- , Mahim Jain
- , Mohammad M. Motazacker
- , Bregje Jaeger
- , Amy L. Schneider
- , Katja Boysen
- , Alison M. Muir
- , Candace T. Myers
- , Ralitza H. Gavrilova
- , Lauren Gunderson
- , Laura Schultz-Rogers
- , Eric W. Klee
- , David Dyment
- , Matthew Osmond
- , Mara Parellada
- , Cloe Llorente
- , Javier Gonzalez-Peñas
- , Angel Carracedo
- , Arie Van Haeringen
- , Claudia Ruivenkamp
- , Caroline Nava
- , Delphine Heron
- , Rosaria Nardello
- , Michele Iacomino
- , Carlo Minetti
- , Aldo Skabar
- , Antonella Fabretto
- , Michael G. Hanna
- , Enrico Bugiardini
- , Isabel Hostettler
- , Benjamin O’Callaghan
- , Alaa Khan
- , Andrea Cortese
- , Emer O’Connor
- , Wai Y. Yau
- , Thomas Bourinaris
- , Rauan Kaiyrzhanov
- , Viorica Chelban
- , Monika Madej
- , Maria C. Diana
- , Maria S. Vari
- , Marina Pedemonte
- , Claudio Bruno
- , Ganna Balagura
- , Marcello Scala
- , Chiara Fiorillo
- , Lino Nobili
- , Nancy T. Malintan
- , Maria N. Zanetti
- , Shyam S. Krishnakumar
- , Gabriele Lignani
- , James E. C. Jepson
- , Paolo Broda
- , Simona Baldassari
- , Pia Rossi
- , Floriana Fruscione
- , Francesca Madia
- , Monica Traverso
- , Patrizia De-Marco
- , Belen Pérez-Dueñas
- , Francina Munell
- , Yamna Kriouile
- , Mohamed El-Khorassani
- , Blagovesta Karashova
- , Daniela Avdjieva
- , Hadil Kathom
- , Radka Tincheva
- , Lionel Van-Maldergem
- , Wolfgang Nachbauer
- , Sylvia Boesch
- , Antonella Gagliano
- , Elisabetta Amadori
- , Jatinder S. Goraya
- , Tipu Sultan
- , Salman Kirmani
- , Shahnaz Ibrahim
- , Farida Jan
- , Jun Mine
- , Selina Banu
- , Pierangelo Veggiotti
- , Gian V. Zuccotti
- , Michel D. Ferrari
- , Arn M. J. Van Den Maagdenberg
- , Alberto Verrotti
- , Gian L. Marseglia
- , Salvatore Savasta
- , Miguel A. Soler
- , Carmela Scuderi
- , Eugenia Borgione
- , Roberto Chimenz
- , Eloisa Gitto
- , Valeria Dipasquale
- , Alessia Sallemi
- , Monica Fusco
- , Caterina Cuppari
- , Maria C. Cutrupi
- , Martino Ruggieri
- , Armando Cama
- , Valeria Capra
- , Niccolò E. Mencacci
- , Richard Boles
- , Neerja Gupta
- , Madhulika Kabra
- , Savvas Papacostas
- , Eleni Zamba-Papanicolaou
- , Efthymios Dardiotis
- , Shazia Maqbool
- , Nuzhat Rana
- , Osama Atawneh
- , Shen Y. Lim
- , Farooq Shaikh
- , George Koutsis
- , Marianthi Breza
- , Domenico A. Coviello
- , Yves A. Dauvilliers
- , Issam AlKhawaja
- , Mariam AlKhawaja
- , Fuad Al-Mutairi
- , Tanya Stojkovic
- , Veronica Ferrucci
- , Massimo Zollo
- , Fowzan S. Alkuraya
- , Maria Kinali
- , Hamed Sherifa
- , Hanene Benrhouma
- , Ilhem B. Y. Turki
- , Meriem Tazir
- , Makram Obeid
- , Sophia Bakhtadze
- , Nebal W. Saadi
- , Maha S. Zaki
- , Chahnez C. Triki
- , Fabio Benfenati
- , Stefano Gustincich
- , Majdi Kara
- , Vincenzo Belcastro
- , Nicola Specchio
- , Giuseppe Capovilla
- , Ehsan G. Karimiani
- , Ahmed M. Salih
- , Njideka U. Okubadejo
- , Oluwadamilola O. Ojo
- , Olajumoke O. Oshinaike
- , Olapeju Oguntunde
- , Kolawole Wahab
- , Abiodun H. Bello
- , Sanni Abubakar
- , Yahaya Obiabo
- , Ernest Nwazor
- , Oluchi Ekenze
- , Uduak Williams
- , Alagoma Iyagba
- , Lolade Taiwo
- , Morenikeji Komolafe
- , Konstantin Senkevich
- , Chingiz Shashkin
- , Nazira Zharkynbekova
- , Kairgali Koneyev
- , Ganieva Manizha
- , Maksud Isrofilov
- , Ulviyya Guliyeva
- , Kamran Salayev
- , Samson Khachatryan
- , Salvatore Rossi
- , Gabriella Silvestri
- , Nourelhoda Haridy
- , Luca A. Ramenghi
- , Georgia Xiromerisiou
- , Emanuele David
- , Mhammed Aguennouz
- , Liana Fidani
- , Cleanthe Spanaki
- , Arianna Tucci
- , Miquel Raspall-Chaure
- , Michael Chez
- , Anne Tsai
- , Emily Fassi
- , Marwan Shinawi
- , John N. Constantino
- , Rita De Zorzi
- , Sara Fortuna
- , Fernando Kok
- , Boris Keren
- , Dominique Bonneau
- , Murim Choi
- , Bruria Benzeev
- , Federico Zara
- , Heather C. Mefford
- , Ingrid E. Scheffer
- , Jill Clayton-Smith
- , Alfons Macaya
- , James E. Rothman
- , Evan E. Eichler
- , Dimitri M. Kullmann
- & Henry Houlden
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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 | | Open
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
- María Cristina Estañ
- , Elisa Fernández-Núñez
- , Maha S. Zaki
- , María Isabel Esteban
- , Sandra Donkervoort
- , Cynthia Hawkins
- , José A. Caparros-Martin
- , Dimah Saade
- , Ying Hu
- , Véronique Bolduc
- , Katherine Ru-Yui Chao
- , Julián Nevado
- , Ana Lamuedra
- , Raquel Largo
- , Gabriel Herrero-Beaumont
- , Javier Regadera
- , Concepción Hernandez-Chico
- , Eduardo F. Tizzano
- , Victor Martinez-Glez
- , Jaime J. Carvajal
- , Ruiting Zong
- , David L. Nelson
- , Ghada A. Otaify
- , Samia Temtamy
- , Mona Aglan
- , Mahmoud Issa
- , Carsten G. Bönnemann
- , Pablo Lapunzina
- , Grace Yoon
- & Victor L. Ruiz-Perez
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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 |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
- Nataliya Di Donato
- , Andrew E Timms
- , Kimberly A Aldinger
- , Ghayda M Mirzaa
- , James T Bennett
- , Sarah Collins
- , Carissa Olds
- , Davide Mei
- , Sara Chiari
- , Gemma Carvill
- , Candace T Myers
- , Jean-Baptiste Rivière
- , Maha S Zaki
- , Joseph G Gleeson
- , Andreas Rump
- , Valerio Conti
- , Elena Parrini
- , M Elizabeth Ross
- , David H Ledbetter
- , Renzo Guerrini
- & William B Dobyns
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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
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Research |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
- Rea M Lardelli
- , Ashleigh E Schaffer
- , Veerle R C Eggens
- , Maha S Zaki
- , Stephanie Grainger
- , Shashank Sathe
- , Eric L Van Nostrand
- , Zinayida Schlachetzki
- , Basak Rosti
- , Naiara Akizu
- , Eric Scott
- , Jennifer L Silhavy
- , Laura Dean Heckman
- , Rasim Ozgur Rosti
- , Esra Dikoglu
- , Anne Gregor
- , Alicia Guemez-Gamboa
- , Damir Musaev
- , Rohit Mande
- , Ari Widjaja
- , Tim L Shaw
- , Sebastian Markmiller
- , Isaac Marin-Valencia
- , Justin H Davies
- , Linda de Meirleir
- , Hulya Kayserili
- , Umut Altunoglu
- , Mary Louise Freckmann
- , Linda Warwick
- , David Chitayat
- , Susan Blaser
- , Ahmet Okay Çağlayan
- , Kaya Bilguvar
- , Huseyin Per
- , Christina Fagerberg
- , Henrik T Christesen
- , Maria Kibaek
- , Kimberly A Aldinger
- , David Manchester
- , Naomichi Matsumoto
- , Kazuhiro Muramatsu
- , Hirotomo Saitsu
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Nicola Foulds
- , William B Dobyns
- , Neil C Chi
- , David Traver
- , Luigina Spaccini
- , Stefania Maria Bova
- , Stacey B Gabriel
- , Murat Gunel
- , Enza Maria Valente
- , Marie-Cecile Nassogne
- , Eric J Bennett
- , Gene W Yeo
- , Frank Baas
- , Jens Lykke-Andersen
- & Joseph G Gleeson
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Research |
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
- Alicia Guemez-Gamboa
- , Long N Nguyen
- , Hongbo Yang
- , Maha S Zaki
- , Majdi Kara
- , Tawfeg Ben-Omran
- , Naiara Akizu
- , Rasim Ozgur Rosti
- , Basak Rosti
- , Eric Scott
- , Jana Schroth
- , Brett Copeland
- , Keith K Vaux
- , Amaury Cazenave-Gassiot
- , Debra Q Y Quek
- , Bernice H Wong
- , Bryan C Tan
- , Markus R Wenk
- , Murat Gunel
- , Stacey Gabriel
- , Neil C Chi
- , David L Silver
- & Joseph G Gleeson
-
Research |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
- Naiara Akizu
- , Vincent Cantagrel
- , Maha S Zaki
- , Lihadh Al-Gazali
- , Xin Wang
- , Rasim Ozgur Rosti
- , Esra Dikoglu
- , Antoinette Bernabe Gelot
- , Basak Rosti
- , Keith K Vaux
- , Eric M Scott
- , Jennifer L Silhavy
- , Jana Schroth
- , Brett Copeland
- , Ashleigh E Schaffer
- , Philip L S M Gordts
- , Jeffrey D Esko
- , Matthew D Buschman
- , Seth J Field
- , Gennaro Napolitano
- , Ghada M Abdel-Salam
- , R Koksal Ozgul
- , Mahmut Samil Sagıroglu
- , Matloob Azam
- , Samira Ismail
- , Mona Aglan
- , Laila Selim
- , Iman G Mahmoud
- , Sawsan Abdel-Hadi
- , Amera El Badawy
- , Abdelrahim A Sadek
- , Faezeh Mojahedi
- , Hulya Kayserili
- , Amira Masri
- , Laila Bastaki
- , Samia Temtamy
- , Ulrich Müller
- , Isabelle Desguerre
- , Jean-Laurent Casanova
- , Ali Dursun
- , Murat Gunel
- , Stacey B Gabriel
- , Pascale de Lonlay
- & Joseph G Gleeson
-
Research |
-
Research |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- Ji Eun Lee
- , Jennifer L Silhavy
- , Maha S Zaki
- , Jana Schroth
- , Stephanie L Bielas
- , Sarah E Marsh
- , Jesus Olvera
- , Francesco Brancati
- , Miriam Iannicelli
- , Koji Ikegami
- , Andrew M Schlossman
- , Barry Merriman
- , Tania Attié-Bitach
- , Clare V Logan
- , Ian A Glass
- , Andrew Cluckey
- , Carrie M Louie
- , Jeong Ho Lee
- , Hilary R Raynes
- , Isabelle Rapin
- , Ignacio P Castroviejo
- , Mitsutoshi Setou
- , Clara Barbot
- , Eugen Boltshauser
- , Stanley F Nelson
- , Friedhelm Hildebrandt
- , Colin A Johnson
- , Daniel A Doherty
- , Enza Maria Valente
- & Joseph G Gleeson
