Literature DB >> 30460687

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain.

Y Peng1, P Wang1, Z Chen1, H Jiang1.   

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Year:  2018        PMID： 30460687     DOI： 10.1111/cge.13467

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


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  5 in total

1.  Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

Authors:  Eliana Marisa Ramos; Alessandro Roca; Noravit Chumchim; Deepika Reddy Dokuru; Victoria Van Berlo; Giovanna De Michele; Maria Lieto; Enrico Tedeschi; Giuseppe De Michele; Giovanni Coppola
Journal:  Neurogenetics       Date:  2019-03-21       Impact factor: 2.660

Review 2.  MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.

Authors:  Max Bauer; Dolev Rahat; Elad Zisman; Yuval Tabach; Alexander Lossos; Vardiella Meiner; David Arkadir
Journal:  Curr Neurol Neurosci Rep       Date:  2019-08-23       Impact factor: 5.081

3.  Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.

Authors:  Mingjie Liu; Linlin Wan; Chunrong Wang; Hongyu Yuan; Yun Peng; Na Wan; Zhichao Tang; Xinrong Yuan; Daji Chen; Zhe Long; Yuting Shi; Rong Qiu; Beisha Tang; Hong Jiang; Zhao Chen
Journal:  Genes Genomics       Date:  2022-03-30       Impact factor: 2.164

4.  Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report.

Authors:  Qijie Yang; Jian Li; Bin Jiao; Ling Weng
Journal:  Ann Transl Med       Date:  2022-04

5.  MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.

Authors:  Viorica Chelban; Miryam Carecchio; Gillian Rea; Abdalla Bowirrat; Salman Kirmani; Luca Magistrelli; Stephanie Efthymiou; Lucia Schottlaender; Jana Vandrovcova; Vincenzo Salpietro; Ettore Salsano; Davide Pareyson; Luisa Chiapparini; Farida Jan; Shahnaz Ibrahim; Fatima Khan; Zul Qarnain; Stanislav Groppa; Nin Bajaj; Bettina Balint; Kailash P Bhatia; Andrew Lees; Patrick J Morrison; Nicholas W Wood; Barbara Garavaglia; Henry Houlden
Journal:  Neurol Genet       Date:  2020-02-20
  5 in total

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