Literature DB >> 29295770

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

Edoardo Monfrini1, Valentina Melzi1, Gabriele Buongarzone1, Giulia Franco1, Dario Ronchi1, Robertino Dilena2, Elisa Scola3, Paola Vizziello4, Andreina Bordoni1, Nereo Bresolin1, Giacomo Pietro Comi1, Stefania Corti1, Alessio Di Fonzo5.   

Abstract

Entities:  

Keywords:  C19orf12; De novo mutation; Heterozygous mutation; MPAN; NBIA

Mesh：

Substances：

Year:  2017        PMID： 29295770     DOI： 10.1016/j.parkreldis.2017.12.025

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  8 in total

1.  Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.

Authors:  Peter Sparber; Andrey Marakhonov; Alexandra Filatova; Inna Sharkova; Mikhail Skoblov
Journal:  Neurogenetics       Date:  2018-11-03       Impact factor: 2.660

2.  SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Authors:  Gauthier Remiche; Isabelle Vandernoot; Niloufar Sadeghi-Meibodi; Laurence Desmyter
Journal:  Neurogenetics       Date:  2021-01-04       Impact factor: 2.660

3.  C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.

Authors:  Changjuan Shao; Julia Zhu; Xiaopin Ma; Sandra L Siedlak; Mark L Cohen; Alan Lerner; Wenzhang Wang
Journal:  Free Radic Biol Med       Date:  2022-02-17       Impact factor: 7.376

4.  A Case of MPAN with "Eye of the Tiger Sign," Mimicking PKAN.

Authors:  Masoumeh Dehghan Manshadi; Mohammd Rohani; Ali Rezaei; Omid Aryani
Journal:  Mov Disord Clin Pract       Date:  2022-06-23

Review 5.  Cerebral Iron Deposition in Neurodegeneration.

Authors:  Petr Dusek; Tim Hofer; Jan Alexander; Per M Roos; Jan O Aaseth
Journal:  Biomolecules       Date:  2022-05-17

6.  Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Authors:  Allison Gregory; Mitesh Lotia; Suh Young Jeong; Rachel Fox; Dolly Zhen; Lynn Sanford; Jeff Hamada; Amir Jahic; Christian Beetz; Alison Freed; Manju A Kurian; Thomas Cullup; Marlous C M van der Weijden; Vy Nguyen; Naly Setthavongsack; Daphne Garcia; Victoria Krajbich; Thao Pham; Randy Woltjer; Benjamin P George; Kelly Q Minks; Alexander R Paciorkowski; Penelope Hogarth; Joseph Jankovic; Susan J Hayflick
Journal:  Mol Genet Genomic Med       Date:  2019-05-13       Impact factor: 2.183

7.  Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Authors:  Yue Yang; Shijie Zhang; Wenming Yang; Taohua Wei; Wenjie Hao; Ting Cheng; Jiuxiang Wang; Wei Dong; Nannan Qian
Journal:  Front Genet       Date:  2022-03-30       Impact factor: 4.599

8.  A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

Authors:  Stuart Fraser; Mary Koenig; Laura Farach; Pedro Mancias; Kate Mowrey
Journal:  Mol Genet Genomic Med       Date:  2021-05-27       Impact factor: 2.183
  8 in total

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