A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14-Reference-Cited by-同舟云学术

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A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

Published:2005-09-28 Issue:10 Volume:50 Page:523-529
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Alonso Isabel,Costa Cristina,Gomes André,Ferro Anabela,Seixas Ana I.,Silva Sérgio,Cruz Vitor Tedim,Coutinho Paula,Sequeiros Jorge,Silveira Isabel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200578.pdf

Reference21 articles.

1. Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003) Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol 60:610–614

2. Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD (2002) A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 59:1291–1295

3. Chen C, Kano M, Abeliovich A, Chen L, Bao S, Kim JJ, Hashimoto K, Thompson RF, Tonegawa S (1995) Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice. Cell 83:1233–1242

4. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839–849

5. Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD (2005) The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 64:1258–1260

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1. Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype;Annals of Indian Academy of Neurology;2023

2. Spinocerebellar ataxias (SCAs) caused by common mutations;neurogenetics;2021-08-16

3. Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder;Annals of Clinical and Translational Neurology;2021-03-19

4. Paraneoplastic cerebellar degeneration associated with anti-protein kinase Cgamma antibodies in a Chinese patient;Journal of Neuroimmunology;2021-01

5. Spinocerebellar Ataxia Types 13, 14, 15, and 16☆;Reference Module in Neuroscience and Biobehavioral Psychology;2017

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