Literature DB >> 30649222

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.

Yalda Forouhideh1, Kathrin Müller1, Wolfgang Ruf1, Muhannad Assi1, Tuncay Seker2, Ceren Tunca3, Antje Knehr1, Tim M Strom4,5,6, Martin Gorges1, Falk Schradt1, Thomas Meitinger4,5,6, Albert C Ludolph1, Elmar H Pinkhardt1, A Nazli Basak3, Jan Kassubek1, Ingo Uttner1, Jochen H Weishaupt1.   

Abstract

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Year:  2019        PMID： 30649222     DOI： 10.1093/brain/awy343

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 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.  The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.

Authors:  Richard W Meek; Jacob Brockerman; Osei B Fordwour; Wesley F Zandberg; Gideon J Davies; David J Vocadlo
Journal:  PLoS Biol       Date:  2022-09-21       Impact factor: 9.593

4.  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
  4 in total

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