Literature DB >> 20583151

Vici syndrome associated with unilateral lung hypoplasia and myopathy.

Mohammed Al-Owain1, Amal Al-Hashem, Mohammed Al-Muhaizea, Hani Humaidan, Hindi Al-Hindi, Iftetah Al-Homoud, Ibrahim Al-Mogarri.   

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Year:  2010        PMID： 20583151     DOI： 10.1002/ajmg.a.33421

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  14 in total

Review 1.  Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal:  Brain       Date:  2015-12-29       Impact factor: 13.501

2.  Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa.

Authors:  Guangyan Miao; Yan G Zhao; Hongyu Zhao; Cuicui Ji; Huayu Sun; Yingyu Chen; Hong Zhang
Journal:  Autophagy       Date:  2016-10-07       Impact factor: 16.016

3.  Role of Epg5 in selective neurodegeneration and Vici syndrome.

Authors:  Yan G Zhao; Hongyu Zhao; Huayu Sun; Hong Zhang
Journal:  Autophagy       Date:  2013-05-14       Impact factor: 16.016

4.  EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Authors:  Shanti Balasubramaniam; Lisa G Riley; Anand Vasudevan; Mark J Cowley; Velimir Gayevskiy; Carolyn M Sue; Caitlin Edwards; Edward Edkins; Reimar Junckerstorff; C Kiraly-Borri; P Rowe; J Christodoulou
Journal:  JIMD Rep       Date:  2017-11-21

5.  Clinical utility gene card for: Vici Syndrome.

Authors:  Thomas Cullup; Carlo Dionisi-Vici; Ay L Kho; Shu Yau; Shehla Mohammed; Mathias Gautel; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2013-07-10       Impact factor: 4.246

Review 6.  Vici syndrome: a review.

Authors:  Susan Byrne; Carlo Dionisi-Vici; Luke Smith; Mathias Gautel; Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2016-02-29       Impact factor: 4.123

7.  EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Authors:  Susan Byrne; Lara Jansen; Jean-Marie U-King-Im; Ata Siddiqui; Hart G W Lidov; Istvan Bodi; Luke Smith; Rachael Mein; Thomas Cullup; Carlo Dionisi-Vici; Lihadh Al-Gazali; Mohammed Al-Owain; Zandre Bruwer; Khalid Al Thihli; Rana El-Garhy; Kevin M Flanigan; Kandamurugu Manickam; Erik Zmuda; Wesley Banks; Ruth Gershoni-Baruch; Hanna Mandel; Efrat Dagan; Annick Raas-Rothschild; Hila Barash; Francis Filloux; Donnell Creel; Michael Harris; Ada Hamosh; Stefan Kölker; Darius Ebrahimi-Fakhari; Georg F Hoffmann; David Manchester; Philip J Boyer; Adnan Y Manzur; Charles Marques Lourenco; Daniela T Pilz; Arveen Kamath; Prab Prabhakar; Vamshi K Rao; R Curtis Rogers; Monique M Ryan; Natasha J Brown; Catriona A McLean; Edith Said; Ulrike Schara; Anja Stein; Caroline Sewry; Laura Travan; Frits A Wijburg; Martin Zenker; Shehla Mohammed; Manolis Fanto; Mathias Gautel; Heinz Jungbluth
Journal:  Brain       Date:  2016-03       Impact factor: 13.501

Review 8.  Towards a better understanding of the neuro-developmental role of autophagy in sickness and in health.

Authors:  Juan Zapata-Muñoz; Beatriz Villarejo-Zori; Pablo Largo-Barrientos; Patricia Boya
Journal:  Cell Stress       Date:  2021-06-29

9.  Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability.

Authors:  R Curtis Rogers; Bridgette Aufmuth; Stephanie Monesson
Journal:  Case Rep Genet       Date:  2011-06-22

10.  Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Authors:  Thomas Cullup; Ay Lin Kho; Carlo Dionisi-Vici; Birgit Brandmeier; Frances Smith; Zoe Urry; Michael A Simpson; Shu Yau; Enrico Bertini; Verity McClelland; Mohammed Al-Owain; Stefan Koelker; Christian Koerner; Georg F Hoffmann; Frits A Wijburg; Amber E ten Hoedt; R Curtis Rogers; David Manchester; Rie Miyata; Masaharu Hayashi; Elizabeth Said; Doriette Soler; Peter M Kroisel; Christian Windpassinger; Francis M Filloux; Salwa Al-Kaabi; Jozef Hertecant; Miguel Del Campo; Stefan Buk; Istvan Bodi; Hans-Hilmar Goebel; Caroline A Sewry; Stephen Abbs; Shehla Mohammed; Dragana Josifova; Mathias Gautel; Heinz Jungbluth
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330
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