Neurological aspects of human glycosylation disorders.

Quo vadis: the re-definition of "inborn metabolic diseases". J Inherit Metab Dis (2015) 1.06

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat (2016) 1.04

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG. J Inherit Metab Dis (2015) 0.79

In-depth mapping of the mouse brain N-glycoproteome reveals widespread N-glycosylation of diverse brain proteins. Oncotarget (2016) 0.77

The multiple roles of epidermal growth factor repeat O-glycans in animal development. Glycobiology (2015) 0.77

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review. JIMD Rep (2016) 0.77

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model. Dis Model Mech (2016) 0.76

Clinical and Molecular Characterization of ALG1-CDG. Pediatr Neurol Briefs (2016) 0.75

Glycomics: revealing the dynamic ecology and evolution of sugar molecules. J Proteomics (2015) 0.75

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A (2016) 0.75

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1). Biomolecules (2015) 0.75

A novel high-throughput yeast genetic screen for factors modifying protein levels of the Early-Onset Torsion Dystonia-associated variant torsinAΔE. Dis Model Mech (2017) 0.75

What is new in CDG? J Inherit Metab Dis (2017) 0.75

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A (2017) 0.75

Biological roles of oligosaccharides: all of the theories are correct. Glycobiology (1993) 12.38

De novo mutations in epileptic encephalopathies. Nature (2013) 7.42

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum Mutat (2011) 6.25

Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds. Glycobiology (2002) 4.11

PirB is a functional receptor for myelin inhibitors of axonal regeneration. Science (2008) 3.86

Precision mapping of an in vivo N-glycoproteome reveals rigid topological and sequence constraints. Cell (2010) 3.60

Morpheus unbound: reimagining the morphogen gradient. Cell (2007) 3.49

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science (2010) 2.98

Dystroglycanopathies: coming into focus. Curr Opin Genet Dev (2011) 2.75

Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med (2014) 2.57

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet (2004) 2.45

Metabolism, cell surface organization, and disease. Cell (2009) 2.41

Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet (2011) 2.32

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet (2014) 2.20

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18

Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. Proc Natl Acad Sci U S A (1996) 2.10

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med (2006) 1.97

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83

Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82

A new procedure for the extraction, purification and fractionation of brain gangliosides. Biochim Biophys Acta (1973) 1.79

Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet (2014) 1.73

Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem (2013) 1.72

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. Proc Natl Acad Sci U S A (2009) 1.60

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet (2011) 1.55

Polysialylated neural cell adhesion molecule promotes remodeling and formation of hippocampal synapses. J Neurosci (2004) 1.53

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52

Proteomic analysis of mammalian oligosaccharyltransferase reveals multiple subcomplexes that contain Sec61, TRAP, and two potential new subunits. Biochemistry (2005) 1.51

Sialyltransferase specificity in selectin ligand formation. Blood (2002) 1.50

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014) 1.46

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet (2012) 1.46

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet (2012) 1.40

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39

NCAM is essential for axonal growth and fasciculation in the hippocampus. Mol Cell Neurosci (1997) 1.37

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) J Clin Invest (2000) 1.36

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat (2003) 1.36

Site-specific protein O-glycosylation modulates proprotein processing - deciphering specific functions of the large polypeptide GalNAc-transferase gene family. Biochim Biophys Acta (2012) 1.36

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet Med (2014) 1.33

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest (2001) 1.33

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet (2011) 1.32

Glycomic analyses of mouse models of congenital muscular dystrophy. J Biol Chem (2011) 1.32

Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration. Physiol Rev (2014) 1.32

Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins. Proc Natl Acad Sci U S A (2013) 1.27

Congenital disorders of glycosylation: genetic model systems lead the way. Trends Cell Biol (2001) 1.26

Carbohydrate-to-carbohydrate interaction, through glycosynapse, as a basis of cell recognition and membrane organization. Glycoconj J (2004) 1.26

Paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol (2012) 1.25

Probing isoform-specific functions of polypeptide GalNAc-transferases using zinc finger nuclease glycoengineered SimpleCells. Proc Natl Acad Sci U S A (2012) 1.22

The role of Nogo-A in axonal plasticity, regrowth and repair. Cell Tissue Res (2012) 1.22

The nogo receptor family restricts synapse number in the developing hippocampus. Neuron (2012) 1.22

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A (2013) 1.20

Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa. Biochim Biophys Acta (2002) 1.20

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet (2013) 1.19

The genetic landscape of infantile spasms. Hum Mol Genet (2014) 1.18

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain (2013) 1.18

Dissecting polysialic acid and NCAM functions in brain development. J Neurochem (2007) 1.18

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child (2001) 1.16

Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. J Biol Chem (2005) 1.16

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet (2013) 1.15

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. Am J Med Genet A (2013) 1.14

The challenge and promise of glycomics. Chem Biol (2014) 1.13

Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion. Proc Natl Acad Sci U S A (2013) 1.13

Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy. Clin Cancer Res (2010) 1.10

Structure of the oligosaccharyl transferase complex at 12 A resolution. Structure (2008) 1.10

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol (2005) 1.10

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab (2011) 1.09

Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate. Proc Natl Acad Sci U S A (2012) 1.08

New trends in neuronal migration disorders. Eur J Paediatr Neurol (2009) 1.08

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain (2013) 1.03

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet (2013) 1.03

An epidermal microRNA regulates neuronal migration through control of the cellular glycosylation state. Science (2013) 1.02

ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet (2011) 1.01

Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N-glycosylation. Structure (2014) 1.01

The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol (2005) 0.99

Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol (2011) 0.99

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell (2012) 0.99

Modulation of voltage-gated ion channels by sialylation. Compr Physiol (2012) 0.98

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat (2013) 0.98

Mice deficient in the St3gal3 gene product α2,3 sialyltransferase (ST3Gal-III) exhibit enhanced allergic eosinophilic airway inflammation. J Allergy Clin Immunol (2013) 0.98

Organization of the Sec61 translocon, studied by high resolution native electrophoresis. J Proteome Res (2010) 0.97

Congenital myasthenic syndromes: recent advances. Arch Neurol (1999) 0.96

The Golgi puppet master: COG complex at center stage of membrane trafficking interactions. Histochem Cell Biol (2013) 0.96

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis (1998) 0.96

Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum. Glycobiology (2004) 0.96

Mapping posttranscriptional regulation of the human glycome uncovers microRNA defining the glycocode. Proc Natl Acad Sci U S A (2014) 0.95

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics (2012) 0.95

A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins. Glycobiology (2012) 0.94

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain (2013) 0.93

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet (2013) 0.93

Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates. Biochemistry (2014) 0.92

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A (2012) 0.92

Gating of the shaker potassium channel is modulated differentially by N-glycosylation and sialic acids. Pflugers Arch (2007) 0.92

Probing polypeptide GalNAc-transferase isoform substrate specificities by in vitro analysis. Glycobiology (2014) 0.91

Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology (2013) 0.91

The mevalonate pathway regulates microRNA activity in Caenorhabditis elegans. Proc Natl Acad Sci U S A (2012) 0.91

Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03

Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol (2009) 2.88

Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78

Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med (2009) 2.07

Neurology of inherited glycosylation disorders. Lancet Neurol (2012) 1.82

Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. Dev Med Child Neurol (2009) 1.60

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab (2009) 1.56

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat (2003) 1.54

COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet (2007) 1.41

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet (2013) 1.24

The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta (2004) 1.23

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem (2011) 1.19

A novel treatment approach for paediatric Gorham-Stout syndrome with chylothorax. Acta Paediatr (2011) 1.17

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. J Biol Chem (2005) 1.16

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med (2011) 1.15

Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. J Pediatr (2005) 1.12

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09

A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J (2012) 1.09

IGF system in children with congenital disorders of glycosylation. Clin Endocrinol (Oxf) (2009) 1.05

Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition". Pediatrics (2007) 1.04

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis (2013) 1.04

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet (2013) 1.03

Spiral analysis in Niemann-Pick disease type C. Mov Disord (2009) 1.01

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab (2005) 0.99

Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol (2011) 0.99

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis (2012) 0.99

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet (2002) 0.99

Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem (2012) 0.98

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet (2013) 0.98

Unraveling the sterol-trafficking defect in Niemann-Pick C disease. Proc Natl Acad Sci U S A (2009) 0.96

Identification of a synovial fibroblast-specific protein transduction domain for delivery of apoptotic agents to hyperplastic synovium. Mol Ther (2003) 0.94

Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol (2004) 0.93

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review. Autism Res (2013) 0.91

RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90

Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus. Am J Clin Nutr (2008) 0.90

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet (2013) 0.85

Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient. Pediatr Transplant (2013) 0.84

Epilepsy in children--when should we think neurometabolic disease? J Child Neurol (2012) 0.83

CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A (2007) 0.82

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J (2014) 0.81

Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic (2013) 0.80

Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol (2011) 0.80

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab (2013) 0.79

Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. J Child Neurol (2004) 0.78

Subclinical seizures in children diagnosed with localization-related epilepsy: clinical and EEG characteristics. Epilepsy Behav (2009) 0.77

Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome. Ideggyogy Sz (2009) 0.77

Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. Am J Med Genet A (2009) 0.76

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. J Child Neurol (2011) 0.76

Mental retardation: X marks the spot. Neurology (2003) 0.75

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome. Orphanet J Rare Dis (2013) 0.75

Movers and shakers: diagnosing neurotransmitter diseases with CSF. Neurology (2010) 0.75

From stargazing chicks to seizing infants: thiamine deficiency redux. Neurology (2009) 0.75

Measuring to improve: a new rating scale for Batten disease. Neurology (2011) 0.75

Holoprosencephaly: the face predicts the brain; the image predicts its function. Neurology (2002) 0.75

In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006. Pediatr Neurol (2006) 0.75

The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care center. Seizure (2008) 0.75

Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring. J Child Neurol (2008) 0.75

Teaching neuroimages: call it as you see it: evolution of bilateral striatal necrosis. Neurology (2012) 0.75

Views of recently first-certified US child neurologists on their residency training. J Child Neurol (2013) 0.75

Trauma Survival Margin Analysis: A Dissection of Trauma Center Performance through Initial Lactate. Am Surg (2016) 0.75