Learning improved representations in encoder-decoder networks for point cloud registration via point interaction modules. [PDF]
Sci RepWei M +5 more
europepmc +1 more source
Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]
Arch Iran MedAlagha P +6 more
europepmc +1 more source
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations. [PDF]
Commun BiolIslam NN +8 more
europepmc +1 more source
Letter to the Editor. Multifaceted approaches for the treatment of stroke and venous thrombosis in PMM2-congenital glycosilation disorder. [PDF]
J Neurosurg Case LessonsFinsterer J.
europepmc +1 more source
Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS. [PDF]
Mol Genet MetabMuffels IJJ +5 more
europepmc +1 more source
Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review. [PDF]
Orphanet J Rare DisGandoy-Fieiras N +2 more
europepmc +1 more source
Phosphomannomutase 1 restrains adipose thermogenic programming via inosine signaling. [PDF]
Mol MetabYe Y +9 more
europepmc +1 more source
Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]
PLoS OneDev P +4 more
europepmc +1 more source
Are viral vector-mediated therapies compatible with aberrant glycosylation? [PDF]
Mol Ther Methods Clin DevMuffels IJJ +6 more
europepmc +1 more source
AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG. [PDF]
Gene TherZhong ML, Lai K.
europepmc +1 more source