Literature DB >> 33816683

Brain Calcification in a Young Adult with Abnormal Copper Metabolism.

Yanbing Hou1, Junyu Lin1, Huifang Shang1.   

Abstract

Entities:  

Year:  2021        PMID： 33816683      PMCID： PMC8015913          DOI： 10.1002/mdc3.13145

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  EASL Clinical Practice Guidelines: Wilson's disease.

Authors: 
Journal:  J Hepatol       Date:  2012-03       Impact factor: 25.083

2.  Fahr disease: use of susceptibility-weighted imaging for diagnostic dilemma with magnetic resonance imaging.

Authors:  Neslin Sahin; Aynur Solak; Berhan Genc; Ugur Kulu
Journal:  Quant Imaging Med Surg       Date:  2015-08

3.  The first Japanese case of primary familial brain calcification caused by an MYORG variant.

Authors:  Kodai Kume; Tadayuki Takata; Hiroyuki Morino; Yukiko Matsuda; Ryosuke Ohsawa; Yui Tada; Takashi Kurashige; Hideshi Kawakami
Journal:  J Hum Genet       Date:  2020-05-25       Impact factor: 3.172

4.  Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.

Authors:  Li-Hua Wang; Ye-Qing Huang; Xuan Shang; Quan-Xi Su; Fu Xiong; Qing-Yun Yu; Hui-Ping Lin; Zhi-Sheng Wei; Ming-Fan Hong; Xiang-Min Xu
Journal:  J Hum Genet       Date:  2011-07-28       Impact factor: 3.172

5.  Identification and analysis of mutations of the Wilson disease gene in Chinese population.

Authors:  Z Wu; N Wang; S Murong; M Lin
Journal:  Chin Med J (Engl)       Date:  2000-01       Impact factor: 2.628

6.  Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Authors:  Lou Grangeon; David Wallon; Camille Charbonnier; Olivier Quenez; Anne-Claire Richard; Stéphane Rousseau; Clara Budowski; Thibaud Lebouvier; Anne-Gaëlle Corbille; Marie Vidailhet; Aurélie Méneret; Emmanuel Roze; Mathieu Anheim; Christine Tranchant; Pascal Favrole; Jean-Christophe Antoine; Luc Defebvre; Xavier Ayrignac; Pierre Labauge; Jérémie Pariente; Michel Clanet; David Maltête; Anne Rovelet-Lecrux; Anne Boland; Jean-François Deleuze; Thierry Frebourg; Didier Hannequin; Dominique Campion; Gaël Nicolas
Journal:  Brain       Date:  2019-06-01       Impact factor: 13.501

7.  Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Authors:  Xiang-Ping Yao; Xuewen Cheng; Chong Wang; Miao Zhao; Xin-Xin Guo; Hui-Zhen Su; Lu-Lu Lai; Xiao-Huan Zou; Xue-Jiao Chen; Yuying Zhao; En-Lin Dong; Ying-Qian Lu; Shuang Wu; Xiaojuan Li; Gaofeng Fan; Hongjie Yu; Jianfeng Xu; Ning Wang; Zhi-Qi Xiong; Wan-Jin Chen
Journal:  Neuron       Date:  2018-06-14       Impact factor: 17.173

8.  A study of brain MRI characteristics and clinical features in 76 cases of Wilson's disease.

Authors:  Wei Zhong; Zhihua Huang; Xiangqi Tang
Journal:  J Clin Neurosci       Date:  2018-10-29       Impact factor: 1.961

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Hypoparathyroidism in a case of Wilson's disease: Rare association of a rare disorder.

Authors:  Jalees Fatima; Ritu Karoli; Vineet Jain
Journal:  Indian J Endocrinol Metab       Date:  2013-03
  10 in total

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