Literature DB >> 23551081

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

H Maruyama1, H Morino, R Miyamoto, N Murakami, T Hamano, H Kawakami.   

Abstract

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Year:  2013        PMID： 23551081     DOI： 10.1111/cge.12140

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 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.  Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship.

Authors:  Petya Bogdanova-Mihaylova; Neil Austin; Michael D Alexander; Lorraine Cassidy; Anne Early; Raymond P Murphy; Sinéad M Murphy; Richard A Walsh
Journal:  Mov Disord Clin Pract       Date:  2016-07-18

3.  A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Authors:  May Christine V Malicdan; Thierry Vilboux; Bruria Ben-Zeev; Jennifer Guo; Aviva Eliyahu; Ben Pode-Shakked; Amir Dori; Sravan Kakani; Settara C Chandrasekharappa; Carlos R Ferreira; Natalia Shelestovich; Dina Marek-Yagel; Hadass Pri-Chen; Ilan Blatt; John E Niederhuber; Langping He; Camilo Toro; Robert W Taylor; John Deeken; Tal Yardeni; Douglas C Wallace; William A Gahl; Yair Anikster
Journal:  Hum Mutat       Date:  2017-11-08       Impact factor: 4.878

Review 4.  ANO10 Function in Health and Disease.

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

5.  Anoctamins support calcium-dependent chloride secretion by facilitating calcium signaling in adult mouse intestine.

Authors:  Rainer Schreiber; Diana Faria; Boris V Skryabin; Podchanart Wanitchakool; Jason R Rock; Karl Kunzelmann
Journal:  Pflugers Arch       Date:  2014-07-01       Impact factor: 3.657

6.  ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Authors:  Andrea Balreira; Veronika Boczonadi; Emanuele Barca; Angela Pyle; Boglarka Bansagi; Marie Appleton; Claire Graham; Iain P Hargreaves; Vedrana Milic Rasic; Hanns Lochmüller; Helen Griffin; Robert W Taylor; Ali Naini; Patrick F Chinnery; Michio Hirano; Catarina M Quinzii; Rita Horvath
Journal:  J Neurol       Date:  2014-09-03       Impact factor: 4.849

7.  The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.

Authors:  Simon R Bushell; Ashley C W Pike; Maria E Falzone; Nils J G Rorsman; Chau M Ta; Robin A Corey; Thomas D Newport; John C Christianson; Lara F Scofano; Chitra A Shintre; Annamaria Tessitore; Amy Chu; Qinrui Wang; Leela Shrestha; Shubhashish M M Mukhopadhyay; James D Love; Nicola A Burgess-Brown; Rebecca Sitsapesan; Phillip J Stansfeld; Juha T Huiskonen; Paolo Tammaro; Alessio Accardi; Elisabeth P Carpenter
Journal:  Nat Commun       Date:  2019-09-02       Impact factor: 14.919

8.  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

9.  'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

Authors:  Kunihiro Yoshida; Satoko Miyatake; Tomomi Kinoshita; Hiroshi Doi; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-09-11       Impact factor: 3.172

10.  Anoctamin 1/TMEM16A controls intestinal Cl- secretion induced by carbachol and cholera toxin.

Authors:  Byeongjun Lee; Gyu-Sang Hong; Sung Hoon Lee; Hyungsup Kim; Ajung Kim; Eun Mi Hwang; Jiyoon Kim; Min Goo Lee; Jin-Young Yang; Mi-Na Kweon; Chung-Ming Tse; Donowitz Mark; Uhtaek Oh
Journal:  Exp Mol Med       Date:  2019-08-05       Impact factor: 8.718
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