Browsing Center for Genomic Regulation (CRG) by Author "Abicht, Angela"

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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Thompson, Rachel; Abicht, Angela; Beeson, David; Engel, Andrew G.; Eymard, Bruno; Maxime, Emmanuel; Lochmüller, Hanns (BioMed Central, 2018)

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly ...
Long term follow-up on pediatric cases with congenital myasthenic syndromes-a retrospective single centre cohort study

Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kölbel, Heike; Lochmüller, Hanns; Roos, Andreas; Schara-Schmidt, Ulrike (Frontiers Media, 2020)

Introduction: Congenital myasthenic syndromes (CMS) refer to a heterogenic group of neuromuscular transmission disorders. CMS-subtypes are diverse regarding exercise intolerance and muscular weakness, varying from mild ...

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