Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases-Reference-Cited by-同舟云学术

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Published:2018-04 Issue:4 Volume:40 Page:259-267
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Itoh Masayuki,Ide Shuhei,Iwasaki Yuji,Saito Takashi,Narita Keishi,Dai Hongmei,Yamakura Shinji,Furue Takeki,Kitayama Hirotsugu,Maeda Keiko,Takahashi Eihiko,Matsui Kiyoshi,Goto Yu-ichi,Takeda Sen,Arima Masataka

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference27 articles.

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2. Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes;Kumada;Am J Med Genet A,2004

3. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders;Sattar;Dev Med Child Neurol,2011

4. Nephronophthisis;Wolf;Pediatr Nephrol,2011

5. Clinical variability in ciliary disorders;Mykytyn;Nat Genet,2007

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1. Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review;Journal Français d'Ophtalmologie;2024-10

2. Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders;Cureus;2023-05-07

3. Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant;Neuropediatrics;2022-05-31

4. Roles of the actin cytoskeleton in ciliogenesis;Journal of Cell Science;2022-05-15

5. Ultrastructural evidence for an unusual mode of ciliogenesis in mouse multiciliated epithelia;Microscopy;2020-12-01