Literature DB >> 29846532

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Shira Sagie1, Tally Lerman-Sagie1,2,3, Snezana Maljevic4,5, Keren Yosovich6, Katja Detert4, Seo-Kyung Chung7, Mark I Rees7, Holger Lerche4, Dorit Lev1,3,8.   

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Year:  2018        PMID： 29846532     DOI： 10.1093/brain/awy129

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


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  3 in total

1.  Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Authors:  Ayelet Zerem; Keren Yosovich; Yael Cohen Rappaport; Stephanie Libzon; Lubov Blumkin; Liat Ben-Sira; Dorit Lev; Tally Lerman-Sagie
Journal:  Metab Brain Dis       Date:  2019-04-10       Impact factor: 3.584

2.  Modulation of alternative splicing of trafficking genes by genome editing reveals functional consequences in muscle biology.

Authors:  R Eric Blue; Amrita Koushik; Nichlas M Engels; Hannah J Wiedner; Thomas A Cooper; Jimena Giudice
Journal:  Int J Biochem Cell Biol       Date:  2018-10-11       Impact factor: 5.085

3.  Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.

Authors:  Ruizhi Deng; Kristina Lanko; Eva Medico Salsench; Anita Nikoncuk; Soheil Yousefi; Herma C van der Linde; Elena Perenthaler; Tjakko J van Ham; Eskeatnaf Mulugeta; Tahsin Stefan Barakat
Journal:  Genome Med       Date:  2021-10-19       Impact factor: 11.117
  3 in total

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