Literature DB >> 25258354

Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome.

Rie Miyata1, Masaharu Hayashi, Eisaku Itoh.   

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Year:  2014        PMID: 25258354     DOI: 10.1002/ajmg.a.36753

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


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  5 in total

Review 1.  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

2.  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

3.  Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.

Authors:  Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh
Journal:  Sci Rep       Date:  2017-06-14       Impact factor: 4.379

Review 4.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

5.  Neuropathology of genetically defined malformations of cortical development-A systematic literature review.

Authors:  Stefanie Brock; Filip Cools; Anna C Jansen
Journal:  Neuropathol Appl Neurobiol       Date:  2021-02-14       Impact factor: 8.090

  5 in total

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