Literature DB >> 27787937

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.

Nataša Dragašević Mišković1, Aloysius Domingo2,3, Valerija Dobričić1, Christoph Max2, Ingrid Braenne4, Igor Petrović1, Karen Grütz2, Heike Pawlack2, Ivailo Tournev5,6, Luba Kalaydjieva7, Marina Svetel1, Katja Lohmann2, Vladimir S Kostić1, Ana Westenberger2.   

Abstract

Entities:  

Keywords:  ANO10; autosomal recessive cerebellar ataxia; founder mutation; genotype-phenotype correlation; whole-exome sequencing

Mesh：

Substances：

Year:  2016        PMID： 27787937     DOI： 10.1002/mds.26816

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


× No keyword cloud information.
  6 in total

1.  ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Authors:  Lorenzo Nanetti; Elisa Sarto; Anna Castaldo; Stefania Magri; Alessia Mongelli; Davide Rossi Sebastiano; Laura Canafoglia; Marina Grisoli; Chiara Malaguti; Francesca Rivieri; Maria Chiara D'Amico; Daniela Di Bella; Silvana Franceschetti; Caterina Mariotti; Franco Taroni
Journal:  J Neurol       Date:  2018-12-04       Impact factor: 4.849

2.  Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.

Authors:  Vijayendran Chandran; Kun Gao; Vivek Swarup; Revital Versano; Hongmei Dong; Maria C Jordan; Daniel H Geschwind
Journal:  Elife       Date:  2017-12-19       Impact factor: 8.140

Review 3.  ANO10 Function in Health and Disease.

Authors:  Androniki Chrysanthou; Antonis Ververis; Kyproula Christodoulou
Journal:  Cerebellum       Date:  2022-06-01       Impact factor: 3.847

Review 4.  Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.

Authors:  Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti
Journal:  Neuroradiology       Date:  2021-03-17       Impact factor: 2.804

Review 5.  Chloride Homeostasis in Neurons With Special Emphasis on the Olivocerebellar System: Differential Roles for Transporters and Channels.

Authors:  Negah Rahmati; Freek E Hoebeek; Saša Peter; Chris I De Zeeuw
Journal:  Front Cell Neurosci       Date:  2018-05-01       Impact factor: 5.505

6.  Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family.

Authors:  Shi Lin Yang; Shu Fen Chen; Yu Qiong Jiao; Zhi Yuan Dong; Qiang Dong; Xiang Han
Journal:  J Clin Neurol       Date:  2020-04       Impact factor: 3.077
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.