Angela Abicht

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 171 citations · Full text

Neuromuscular Junction, Molecular Neuroscience, Medicine +6

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva et al. · The American Journal of Human Genetics · 2004 · 165 citations · Full text

Medicine, Genetics, Evolutionary Biology +6

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez et al. · Brain · 2008 · 159 citations · Full text

Developmental Anomaly, Rare Diseases, Ache Deficiency +13

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 157 citations

Down Syndrome, Developmental Anomaly, Rare Diseases +10