Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation

(2013) Baoyun Xia et al.   ANALYTICAL BIOCHEMISTRY

Desialylation of surface receptors as a new dimension in cell signaling

(2013) A. V. Pshezhetsky et al.   BIOCHEMISTRY-MOSCOW

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

(2012) Terren K. Niethamer et al.   MOLECULAR GENETICS AND METABOLISM

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

(2012) Ying Liu et al.   MOLECULAR GENETICS AND METABOLISM

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

(2012) Edoardo Giacopuzzi et al.   PLoS One

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

(2011) M. Guillard et al.   CLINICAL CHEMISTRY

Muscular dystrophies due to glycosylation defects

(2011) Francesco Muntoni et al.   CURRENT OPINION IN NEUROLOGY

Serum Neural Cell Adhesion Molecule Is Hyposialylated in Hereditary Inclusion Body Myopathy

(2011) Yadira Valles-Ayoub et al.   Genetic Testing and Molecular Biomarkers

Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex

(2011) Gregory Nemunaitis et al.   HUMAN GENE THERAPY

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

(2010) Gregory Nemunaitis et al.   JOURNAL OF GENE MEDICINE

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

(2010) A. Broccolini et al.   NEUROLOGY

Ganglioside GM3 Levels Are Altered in a Mouse Model of HIBM: GM3 as a Cellular Marker of the Disease

(2010) Thomas Paccalet et al.   PLoS One

Hereditary Inclusion Body Myopathy: A decade of progress

(2009) Marjan Huizing et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

(2009) May Christine V Malicdan et al.   NATURE MEDICINE

Specificity analysis of lectins and antibodies using remodeled glycoproteins

(2008) Thomas Iskratsch et al.   ANALYTICAL BIOCHEMISTRY

Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle

(2008) Aldobrando Broccolini et al.   JOURNAL OF NEUROCHEMISTRY

The hereditary inclusion body myopathy enigma and its future therapy

(2008) Zohar Argov et al.   Neurotherapeutics

Sialic acids in human health and disease

(2008) Ajit Varki   TRENDS IN MOLECULAR MEDICINE