A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]
J Mov DisordZouari R +5 more
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Learning improved representations in encoder-decoder networks for point cloud registration via point interaction modules. [PDF]
Sci RepWei M +5 more
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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
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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.
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Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations. [PDF]
Commun BiolIslam NN +8 more
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Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review. [PDF]
Orphanet J Rare DisGandoy-Fieiras N +2 more
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Phosphomannomutase 1 restrains adipose thermogenic programming via inosine signaling. [PDF]
Mol MetabYe Y +9 more
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Are viral vector-mediated therapies compatible with aberrant glycosylation? [PDF]
Mol Ther Methods Clin DevMuffels IJJ +6 more
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Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]
PLoS OneDev P +4 more
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