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List of works by Adam Bournazos

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.

scientific article published on 16 April 2019

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling.

scientific article published on 9 February 2017

Exoproteome Analysis of the Seaweed Pathogen Nautella italica R11 Reveals Temperature-Dependent Regulation of RTX-Like Proteins.

scientific article

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

scientific article published on 19 January 2016

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.

scientific article

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

scientific article published on 19 December 2017

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

scientific article published on 09 September 2020

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

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