about
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.McArdle disease: a unique study model in sports medicine.McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?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.Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.Clinical utility gene card for McArdle disease.Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.The Pathogenesis and Therapies of Striated Muscle LaminopathiesMinimal symptoms in McArdle disease: A real PYGM genotype effect?Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse modelLow survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse modelDroxidopa, an oral norepinephrine precursor, improves hemodynamic and renal alterations of portal hypertensive ratsLamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular DystrophyAbsence of p.R50X Pygm read-through in McArdle disease cellular models
P50
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P50
description
researcher ORCID ID = 0000-0002-3012-451X
@en
wetenschapper
@nl
name
Astrid Brull
@ast
Astrid Brull
@en
Astrid Brull
@es
Astrid Brull
@nl
type
label
Astrid Brull
@ast
Astrid Brull
@en
Astrid Brull
@es
Astrid Brull
@nl
prefLabel
Astrid Brull
@ast
Astrid Brull
@en
Astrid Brull
@es
Astrid Brull
@nl
P108
P106
P108
P1153
55273692000
P21
P31
P496
0000-0002-3012-451X