Search research articles
Contact Us
Filters
Showing results (21-30 of 35) with videos related to
Page
of 4
Sort By:
Journal of Translational Medicine
|
February 21, 2026
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
American Journal of Human Genetics
|
May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Eva Morava, Ulrich A Schatz, Pernille M Torring, et al.
Molecular Genetics and Metabolism
|
November 1, 2020
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, et al.
Cells
|
January 28, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG
Rameen Shah, Rohit Budhhraja, Silvia Radenkovic, et al.
Biorxiv : the Preprint Server for Biology
|
August 12, 2025
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
Rameen Shah, Rohit Budhraja, Silvia Radenkovic, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology
Andrew C Edmondson, Rohit Budhraja, Zijie Xia, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Cell Reports. Medicine
|
May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation
Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Journal of Translational Medicine
|
February 21, 2026
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
American Journal of Human Genetics
|
May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Eva Morava, Ulrich A Schatz, Pernille M Torring, et al.
Molecular Genetics and Metabolism
|
November 1, 2020
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, et al.
Cells
|
January 28, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG
Rameen Shah, Rohit Budhhraja, Silvia Radenkovic, et al.
Biorxiv : the Preprint Server for Biology
|
August 12, 2025
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
Rameen Shah, Rohit Budhraja, Silvia Radenkovic, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology
Andrew C Edmondson, Rohit Budhraja, Zijie Xia, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Cell Reports. Medicine
|
May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation
Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Page
of 4