Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM1_ESM.pdf
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Update Review about Metabolic Myopathies.
Finsterer J
Life (basel, Switzerland), 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
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Hedberg-Oldfors C et al.
Neuromuscular Disorders : Nmd, 2019
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Desikan M et al.
Neuromuscular Disorders : Nmd, 2018
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
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
Krag TO et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E et al.
Annals of Neurology, 2014
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
Moslemi AR et al.
The New England Journal of Medicine, 2010
Select a paper to view details