Literature DB >> 28716247

A newly homozygous variant in ZNF808: A possible candidate gene for Satoyoshi Syndrome?

Javier Solera1, Sara Álvarez2, Javier Botet3, Carlos de Cabo4.   

Abstract

Entities:  

Keywords:  Autoinmune; Homozygous variant; Neuromuscular; Rare diseases; Whole exome trio analysis; Zinc finger proteins

Mesh:

Year:  2017        PMID: 28716247     DOI: 10.1016/j.jns.2017.06.023

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


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  3 in total

1.  Phenomenology of Muscle Spasms in Satoyoshi Syndrome and Treatment With Botulinum Toxin Injections.

Authors:  Ian O Bledsoe
Journal:  Mov Disord Clin Pract       Date:  2020-05-08

Review 2.  Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.

Authors:  Julián Solís-García Del Pozo; Carlos de Cabo; Javier Solera
Journal:  Orphanet J Rare Dis       Date:  2020-05-19       Impact factor: 4.123

Review 3.  Treatment of Satoyoshi syndrome: a systematic review.

Authors:  Julián Solís-García Del Pozo; Carlos de Cabo; Javier Solera
Journal:  Orphanet J Rare Dis       Date:  2019-06-19       Impact factor: 4.123

  3 in total

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