Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII-Reference-Cited by-同舟云学术

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

Published:2011-08-02 Issue:7 Volume:156 Page:826-834
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kaya Namik,Aldhalaan Hesham,Al-Younes Banan,Colak Dilek,Shuaib Taghreed,Al-Mohaileb Fahad,Al-Sugair Abdulaziz,Nester Michael,Al-Yamani Suad,Al-Bakheet Albandary,Al-Hashmi Nadia,Al-Sayed Moeen,Meyer Brian,Jungbluth Heinz,Al-Owain Mohammed

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.31227/fullpdf

Reference13 articles.

1. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;Boycott;Am J Hum Genet,2005

2. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum;Hirasawa;Mol Cell Neurosci,2007

3. Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1;Hirota;Biochem J,2003

4. Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice;Jiao;Genetics,2005

5. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism;Kim;Arch Neurol,2007

Cited by 56 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia;Movement Disorders;2024-04-06

2. Heritability and recursive influence of host genetics on the rumen microbiota drive body weight variance in male Hu sheep lambs;Microbiome;2023-08-29

3. A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity;Neuroscience;2023-07

4. Carbonic anhydrases in metazoan model organisms: molecules, mechanisms, and physiology;Physiological Reviews;2022-07-01

5. Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease;Metabolic Brain Disease;2022-04-30