Associated Papers
Proteogenomic characterization of invasive breast tumors in young women.
Raj-Kumar PK et al.
Npj Breast Cancer, 2025
40826002 (PubMed )
Supplement: 41523_2025_793_MOESM3_ESM.xlsx › S2E
A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report.
Soufan M et al.
Ajp Reports, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene.
Dhasakeerthi T et al.
Journal of Clinical Neuromuscular Disease, 2021
A multidimensional computational exploration of congenital myasthenic syndrome causing mutations in human choline acetyltransferase.
Janežič M et al.
Journal of Cellular Biochemistry, 2021
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G et al.
Journal of Neurology, 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
New horizons for congenital myasthenic syndromes.
Engel AG et al.
Annals of the New York Academy of Sciences, 2012
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Shen XM et al.
Human Mutation, 2011
Congenital myasthenic syndrome with episodic apnea.
Mallory LA et al.
Pediatric Neurology, 2009
Select a paper to view details