Moniek Riemersma

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Journal: Clinical chemistry

Published: April 09, 2019

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Journal: Genome medicine

Published: July 16, 2017

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Journal: European journal of human genetics : EJHG

Published: January 27, 2017

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Journal: Nature communications

Published: February 15, 2016

Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.

Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.

Journal: ACS chemical biology

Published: August 11, 2015

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Journal: Chemistry & biology

Published: June 30, 2015

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Journal: Human molecular genetics

Published: January 02, 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Journal: Neurology

Published: December 09, 2014

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

Journal: Science (New York, N.Y.)

Published: March 23, 2013

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Journal: American journal of human genetics

Published: February 21, 2013

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Journal: Human molecular genetics

Published: January 30, 2013

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Journal: Annals of neurology

Published: October 31, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026