Associated Papers
The spectrum of neuromuscular diseases with tubular aggregates.
Rashed HR et al.
Neuromuscular Disorders : Nmd, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Katata Y et al.
American Journal of Medical Genetics. Part A, 2022
Genetic defects are common in myopathies with tubular aggregates.
Gang Q et al.
Annals of Clinical and Translational Neurology, 2022
An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase.
Wang CD et al.
Frontiers in Cell and Developmental Biology, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
Palombo F et al.
American Journal of Medical Genetics. Part A, 2021
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J et al.
Brain : a Journal of Neurology, 2013
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