Showing 1–10 of 10 results
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
- Enza Maria Valente
- , Jennifer L Silhavy
- , Francesco Brancati
- , Giuseppe Barrano
- , Suguna Rani Krishnaswami
- , Marco Castori
- , Madeline A Lancaster
- , Eugen Boltshauser
- , Loredana Boccone
- , Lihadh Al-Gazali
- , Elisa Fazzi
- , Sabrina Signorini
- , Carrie M Louie
- , Emanuele Bellacchio
- , International Joubert Syndrome Related Disorders Study Group
- , Enrico Bertini
- , Bruno Dallapiccola
- & Joseph G Gleeson
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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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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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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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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
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- Enza Maria Valente
- , Clare V Logan
- , Soumaya Mougou-Zerelli
- , Jeong Ho Lee
- , Jennifer L Silhavy
- , Francesco Brancati
- , Miriam Iannicelli
- , Lorena Travaglini
- , Sveva Romani
- , Barbara Illi
- , Matthew Adams
- , Katarzyna Szymanska
- , Annalisa Mazzotta
- , Ji Eun Lee
- , Jerlyn C Tolentino
- , Dominika Swistun
- , Carmelo D Salpietro
- , Carmelo Fede
- , Stacey Gabriel
- , Carsten Russ
- , Kristian Cibulskis
- , Carrie Sougnez
- , Friedhelm Hildebrandt
- , Edgar A Otto
- , Susanne Held
- , Bill H Diplas
- , Erica E Davis
- , Mario Mikula
- , Charles M Strom
- , Bruria Ben-Zeev
- , Dorit Lev
- , Tally Lerman Sagie
- , Marina Michelson
- , Yuval Yaron
- , Amanda Krause
- , Eugen Boltshauser
- , Nadia Elkhartoufi
- , Joelle Roume
- , Stavit Shalev
- , Arnold Munnich
- , Sophie Saunier
- , Chris Inglehearn
- , Ali Saad
- , Adila Alkindy
- , Sophie Thomas
- , Michel Vekemans
- , Bruno Dallapiccola
- , Nicholas Katsanis
- , Colin A Johnson
- , Tania Attié-Bitach
- & Joseph G Gleeson
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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
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