Literature DB >> 32125366

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Parneet Kaur1, Rajagopal Kadavigere2, Katta Mohan Girisha1, Anju Shukla1.   

Abstract

Entities:  

Year:  2020        PMID: 32125366     DOI: 10.1093/brain/awaa046

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  3 in total

1.  Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Authors:  Ahmed K Saad; Dana Marafi; Tadahiro Mitani; Angad Jolly; Haowei Du; Hasnaa M Elbendary; Shalini N Jhangiani; Zeynep C Akdemir; Richard A Gibbs; Jill V Hunter; Claudia M B C Carvalho; Davut Pehlivan; Jennifer E Posey; Maha S Zaki; James R Lupski
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501

2.  A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Authors:  Shereen G Ghosh; Marcello Scala; Reza Maroofian; Joseph G Gleeson; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu Yang; Martin W Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour; Lynn Pais; Chloe A Stutterd; Vasiliki Karageorgou; Amber Begtrup; Amy Crunk; Jane Juusola; Rebecca Willaert; Leigh A Flore; Kelly Kennelly; Christopher Spencer; Martha Brown; Pamela Trapane; Anna C E Hurst; S Lane Rutledge; Dana H Goodloe; Marie T McDonald; Vandana Shashi; Kelly Schoch; Hoda Tomoum; Raghda Zaitoun; Zahra Hadipour; Hamid Galehdari; Alistair T Pagnamenta; Majid Mojarrad; Alireza Sedaghat; Patrícia Dias; Sofia Quintas; Atiyeh Eslahi; Gholamreza Shariati; Peter Bauer; Cas Simons; Henry Houlden; Mahmoud Y Issa; Maha S Zaki
Journal:  Eur J Hum Genet       Date:  2020-09-08       Impact factor: 4.246

3.  Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.

Authors:  Akgun Olmez; Selcan Zeybek
Journal:  Ann Indian Acad Neurol       Date:  2022-07-14       Impact factor: 1.714

  3 in total

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