Amina Chaouch

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller et al. · Human Mutation · 2012 · 116 citations

Affinity proteomics within rare diseases: a <scp>BIO</scp> ‐ <scp>NMD</scp> study for blood biomarkers of muscular dystrophies

Burcu Ayoglu, Amina Chaouch, Hanns Lochmüller et al. · EMBO Molecular Medicine · 2014 · 115 citations · Full text

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 100 citations · Full text

Distal Muscle Weakness, Muscle Function, Agrin Mutations +18

Fibronectin is a serum biomarker for <scp>D</scp>uchenne muscular dystrophy

F. Cynthia Martin, Monika Hiller, Pietro Spitali et al. · PROTEOMICS - CLINICAL APPLICATIONS · 2014 · 99 citations · Full text

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Velina Guergueltcheva, Juliane Müller, Marina Dusl et al. · Journal of Neurology · 2011 · 96 citations

Mendelian Disorder, Genetic Disorder, Pathology +2