Results 161 to 170 of about 2,206,162 (231)

A Better Understanding of Joubert Syndrome [PDF]

Journal of Child Neurology, 1999
openaire   +3 more sources

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

, 2012
Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian 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 Doherty, Enza Maria Valente, Joseph G. Gleeson   +29 more
openalex   +2 more sources

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome. [PDF]

Open Life Sci, 2023
Wang H, Nie W, Wang C, Wang Z, Zheng Y.
europepmc   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +1 more source

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]

HGG Adv
Betz C, Reusch B, Langmann T, Habbig S, Beck BB, Bolz HJ.   +5 more
europepmc   +1 more source

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies [PDF]

, 2017
Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, C. Henry, Sophie Saunier, Colin Miles, John A. Sayer   +9 more
openalex   +1 more source

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]

Korean J Ophthalmol
Goh YH, Hwang S, Kim SJ.
europepmc   +1 more source

Joubert syndrome

, 2020
openaire   +1 more source

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

, 2013
Sebiha Cevik, Anna A. W. M. Sanders, Erwin van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J.F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque   +22 more
openalex   +2 more sources