Associated Papers
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Bayat A et al.
Clinical Genetics, 2023
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E et al.
Medicina (kaunas, Lithuania), 2022
PIGN encephalopathy: Characterizing the epileptology.
Bayat A et al.
Epilepsia, 2022
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1.
Xiao SQ et al.
Frontiers in Genetics, 2020
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM et al.
Human Mutation, 2016
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Khayat M et al.
American Journal of Medical Genetics. Part A, 2016
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L et al.
American Journal of Medical Genetics. Part A, 2016
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly.
McKean DM et al.
Biology Open, 2012
Diseases of glycosylation beyond classical congenital disorders of glycosylation.
Hennet T
Biochimica Et Biophysica Acta, 2012
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G et al.
Journal of Medical Genetics, 2011
Histone glycosylation.
Lakatos A et al.
Acta Biochimica Et Biophysica Hungarica, 1989