List of works - Astrid Brull

Absence of p.R50X Pygm read-through in McArdle disease cellular models

scientific article published on 13 January 2020

Clinical utility gene card for McArdle disease.

scientific article published on 25 January 2018

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

scientific article published on 30 March 2016

Droxidopa, an oral norepinephrine precursor, improves hemodynamic and renal alterations of portal hypertensive rats

scientific article published on 14 October 2012

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

scientific article published on 21 November 2017

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

scientific article published on 30 December 2017

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

scientific article

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy

scientific article published on 31 March 2020

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

scientific article published on 30 December 2020

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

scientific article published on 26 March 2019

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

scientific article published on 03 June 2015

McArdle disease: a unique study model in sports medicine.

scientific article

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

scientific article published on 24 September 2015

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

scientific article published on 21 August 2014

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

scientific article published on 18 May 2015

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

scientific article published on 11 March 2015

The Pathogenesis and Therapies of Striated Muscle Laminopathies

scientific article published on 30 October 2018

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

scientific article

List of works by Astrid Brull

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Clinical utility gene card for McArdle disease.

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

Droxidopa, an oral norepinephrine precursor, improves hemodynamic and renal alterations of portal hypertensive rats

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

McArdle disease: a unique study model in sports medicine.

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

The Pathogenesis and Therapies of Striated Muscle Laminopathies

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.