Literature DB >> 28221310

COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.

Hansashree Padmanabha1, Arushi G Saini, Naveen Sankhyan, Pratibha Singhi.   

Abstract

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Year:  2017        PMID： 28221310     DOI： 10.1097/CND.0000000000000160

Source DB:  PubMed          Journal:  J Clin Neuromuscul Dis        ISSN： 1522-0443


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  4 in total

1.  Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.

Authors:  Marta Gómez-García de la Banda; Emmanuel Simental-Aldaba; Nagia Fahmy; Damien Sternberg; Patricia Blondy; Susana Quijano-Roy; Edoardo Malfatti
Journal:  Front Neurol       Date:  2022-06-02       Impact factor: 4.086

2.  Congenital myasthenic syndromes.

Authors:  Josef Finsterer
Journal:  Orphanet J Rare Dis       Date:  2019-02-26       Impact factor: 4.123

3.  The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Authors:  Nicola Laforgia; Lucrezia De Cosmo; Orazio Palumbo; Carlotta Ranieri; Michela Sesta; Donatella Capodiferro; Antonino Pantaleo; Pierluigi Iapicca; Patrizia Lastella; Manuela Capozza; Federico Schettini; Nenad Bukvic; Rosanna Bagnulo; Nicoletta Resta
Journal:  Genes (Basel)       Date:  2020-12-18       Impact factor: 4.096

4.  Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.

Authors:  Richard G Webster; An E Vanhaesebrouck; Susan E Maxwell; Judith A Cossins; Weiwei Liu; Ryo Ueta; Yuji Yamanashi; David M W Beeson
Journal:  Hum Mol Genet       Date:  2020-08-11       Impact factor: 6.150
  4 in total

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