Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
GYG1: A distal myopathy with polyglucosan bodies.
Nicolau S et al.
Jimd Reports, 2020
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.
Yamada M et al.
Molecular Genetics and Metabolism Reports, 2019
Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.
Hedberg-Oldfors C et al.
Acta Neurologica Scandinavica, 2018
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R et al.
Neurology. Genetics, 2017
Update on new muscle glycogenosis.
Laforêt P et al.
Current Opinion in Neurology, 2017
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C et al.
Journal of Inherited Metabolic Disease, 2017
What have we learned about glycogenosis in recent years?
Laforêt P
Revue Neurologique, 2016
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
Colombo I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Akman HO et al.
Neuromuscular Disorders : Nmd, 2016
GYG1 gene mutations in a family with polyglucosan body myopathy.
Fanin M et al.
Neurology. Genetics, 2015
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E et al.
Annals of Neurology, 2014