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 · 117 citations

Medicine, Genetics, Molecular Genetics +16

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

Burcu Ayoglu, Amina Chaouch, Hanns Lochmüller et al. · EMBO Molecular Medicine · 2014 · 116 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

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

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 102 citations · Full text

Medicine, Genetics, Neurology +15

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 · 100 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants

J.C. van den Bergen, Monika Hiller, Stefan Böhringer et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17