Literature DB >> 35844290

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

Masoumeh Dehghan Manshadi1,2, Mohammd Rohani3, Ali Rezaei2, Omid Aryani2,4.   

Abstract

Entities:  

Keywords:  MPAN; MRI; NBIA; eye of the tiger; novel variant

Year:  2022        PMID： 35844290      PMCID： PMC9274333          DOI： 10.1002/mdc3.13493

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


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  10 in total

Review 1.  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

2.  Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Authors:  Eva C Schulte; Malte C Claussen; Angela Jochim; Tobias Haack; Monika Hartig; Maja Hempel; Holger Prokisch; Ursula Haun-Jünger; Juliane Winkelmann; Bernhard Hemmer; Annette Förschler; Rüdiger Ilg
Journal:  Mov Disord       Date:  2012-11-19       Impact factor: 10.338

3.  Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Authors:  Monika B Hartig; Arcangela Iuso; Tobias Haack; Tomasz Kmiec; Elzbieta Jurkiewicz; Katharina Heim; Sigrun Roeber; Victoria Tarabin; Sabrina Dusi; Malgorzata Krajewska-Walasek; Sergiusz Jozwiak; Maja Hempel; Juliane Winkelmann; Matthias Elstner; Konrad Oexle; Thomas Klopstock; Wolfgang Mueller-Felber; Thomas Gasser; Claudia Trenkwalder; Valeria Tiranti; Hans Kretzschmar; Gerd Schmitz; Tim M Strom; Thomas Meitinger; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2011-10-07       Impact factor: 11.025

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

Authors:  Edoardo Monfrini; Valentina Melzi; Gabriele Buongarzone; Giulia Franco; Dario Ronchi; Robertino Dilena; Elisa Scola; Paola Vizziello; Andreina Bordoni; Nereo Bresolin; Giacomo Pietro Comi; Stefania Corti; Alessio Di Fonzo
Journal:  Parkinsonism Relat Disord       Date:  2017-12-27       Impact factor: 4.891

5.  Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.

Authors:  Vykuntaraju K Gowda; Arundhati Patil; Varunvenkat M Srinivasan; Nihar Kathrani
Journal:  Indian J Pediatr       Date:  2019-03-02       Impact factor: 1.967

6.  Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

Authors:  Elke Hattingen; Nikolaus Handke; Kirsten Cremer; Sabine Hoffjan; Guido Matthias Kukuk
Journal:  Clin Neuroradiol       Date:  2017-06-22       Impact factor: 3.649

7.  C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Authors:  M Deschauer; C Gaul; C Behrmann; H Prokisch; S Zierz; T B Haack
Journal:  J Neurol       Date:  2012-05-15       Impact factor: 4.849

Review 8.  Neurodegeneration with brain iron accumulation: diagnosis and management.

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

9.  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

10.  Stereochemical criteria for prediction of the effects of proline mutations on protein stability.

Authors:  Kanika Bajaj; M S Madhusudhan; Bharat V Adkar; Purbani Chakrabarti; C Ramakrishnan; Andrej Sali; Raghavan Varadarajan
Journal:  PLoS Comput Biol       Date:  2007-12       Impact factor: 4.475
  10 in total

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