Literature DB >> 30298423

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Çiğdem Seher Kasapkara1, Leyla Tümer2, Allison Gregory3, Fatih Ezgü2, Aslı İnci2, Betül Emine Derinkuyu4, Rachel Fox3, Caleb Rogers3, Susan Hayflick3.   

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Year:  2018        PMID： 30298423      PMCID： PMC7556727          DOI： 10.1007/s13760-018-1026-5

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  14 in total

1.  A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).

Authors:  Nabil Al Macki; Ismail Al Rashdi
Journal:  Oman Med J       Date:  2017-01

Review 2.  Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Authors:  Monika Hartig; Holger Prokisch; Thomas Meitinger; Thomas Klopstock
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

3.  Mitochondrial membrane protein-associated neurodegeneration.

Authors:  Angela Deutschländer; Takuya Konno; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2017-03-21       Impact factor: 4.891

4.  A 30-year history of MPAN case from Russia.

Authors:  M Selikhova; E Fedotova; S Wiethoff; L V Schottlaender; S Klyushnikov; S N Illarioshkin; H Houlden
Journal:  Clin Neurol Neurosurg       Date:  2017-06-02       Impact factor: 1.876

Review 5.  Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

Authors:  Esther Meyer; Manju A Kurian; Susan J Hayflick
Journal:  Annu Rev Genomics Hum Genet       Date:  2015-05-08       Impact factor: 8.929

6.  The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

Authors:  Simone Olgiati; Okan Doğu; Zeynep Tufekcioglu; Yunus Diler; Esen Saka; Murat Gultekin; Hakan Kaleagasi; Demy Kuipers; Josja Graafland; Guido J Breedveld; Marialuisa Quadri; Reyhan Sürmeli; Gülin Sünter; Tuğrul Doğan; Ayşe Destina Yalçın; Başar Bilgiç; Bülent Elibol; Murat Emre; Hasmet A Hanagasi; Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2017-03-21       Impact factor: 4.891

Review 7.  A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Authors:  Rubens Paulo Araújo Salomão; José Luiz Pedroso; Maria Thereza Drumond Gama; Lívia Almeida Dutra; Ricardo Horta Maciel; Clécio Godeiro-Junior; Hsin Fen Chien; Hélio A G Teive; Francisco Cardoso; Orlando G P Barsottini
Journal:  Arq Neuropsiquiatr       Date:  2016-07       Impact factor: 1.420

Review 8.  Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.

Authors:  Lázaro L F Amaral; Santhosh Gaddikeri; Philip R Chapman; Rasmoni Roy; Ramya S Gaddikeri; Victor Hugo Marussi; Asim K Bag
Journal:  J Neuroimaging       Date:  2014-12-24       Impact factor: 2.486

9.  "Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Authors:  Sangeetha Yoganathan; Sniya Valsa Sudhakar; Maya Thomas; Atanu Kumar Dutta; Sumita Danda
Journal:  Brain Dev       Date:  2015-11-18       Impact factor: 1.961

Review 10.  Neurodegeneration with brain iron accumulation: diagnosis and management.

Authors:  Penelope Hogarth
Journal:  J Mov Disord       Date:  2015-01-13
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  3 in total

1.  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

Review 2.  Cerebral Iron Deposition in Neurodegeneration.

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

3.  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
  3 in total

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