Angela Abicht
Medical Genetics Center(DE)Friedrich Baur Stiftung(DE)
Publications by Year
Research Areas
Myasthenia Gravis and Thymoma, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Cellular transport and secretion, Genomics and Rare Diseases
Most-Cited Works
- → Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies(2014)361 cited
- → Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect(2011)171 cited
- → Mutation History of the Roma/Gypsies(2004)165 cited
- → Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes(2008)159 cited
- → Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes(2007)157 cited
- → Guideline for the management of myasthenic syndromes(2023)127 cited
- → Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients