Results 121 to 130 of about 784 (133)

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Human Mutation, 2015
Patricia Yuste-Checa, Alejandra Gamez, S Brasil   +2 more
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2017
Patricia Yuste-Checa, S Brasil, Alejandra Gamez   +2 more
exaly  

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Genetics in Medicine, 2019
Peter Witters, Tomas Honzik, Arnaud Bruneel   +2 more
exaly  

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of Neurology, 2014
Rita Barone
exaly  

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

International Journal of Molecular Sciences, 2019
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca   +2 more
exaly  

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Annals of Neurology, 2019
Sergio Aguilera-Albesa, Daniel Cuadras, Javier Corral   +2 more
exaly  

PMM2-CDG (Congenital disorders of glycosylation, type Ia)

2020
openaire   +1 more source

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

Molecular and Cellular Proteomics, 2016
Samanta Cajic, Christian Thiel, René Hennig   +2 more
exaly  

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Human Mutation, 2000
exaly  

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in Medicine
Karthik Muthusamy, Marc C Patterson, Eva Morava   +2 more
exaly