ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

(2015) W. Zhang et al.   CLINICAL CHEMISTRY

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

ALG1-CDG: A new case with early fatal outcome

(2013) A.-K. Rohlfing et al.   GENE

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

(2012) E. Morava et al.   PEDIATRICS

Congenital Disorder of Glycosylation

(2012) Timothy M. Snow et al.   Advances in Neonatal Care

O-GlcNAc-Specific Antibody CTD110.6 Cross-Reacts with N-GlcNAc2-Modified Proteins Induced under Glucose Deprivation

(2011) Takahiro Isono   PLoS One

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

(2010) T. Dupre et al.   JOURNAL OF MEDICAL GENETICS