POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

(2014) Anja von Renesse et al.   JOURNAL OF MEDICAL GENETICS

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies

(2013) Elizabeth M. Gibbs et al.   FEBS Journal

TheO-Mannosylation Pathway: Glycosyltransferases and Proteins Implicated in Congenital Muscular Dystrophy

(2013) Lance Wells   JOURNAL OF BIOLOGICAL CHEMISTRY

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy

(2013) Matthew M. Goddeeris et al.   NATURE

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

(2013) T. Yoshida-Moriguchi et al.   SCIENCE

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

(2013) L. T. Jae et al.   SCIENCE

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

(2012) Louise Devisme et al.   BRAIN

Human fetal skeletal muscle contains a myogenic side population that expresses the melanoma cell-adhesion molecule

(2012) Ariya D. Lapan et al.   HUMAN MOLECULAR GENETICS

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

(2012) Tony Roscioli et al.   NATURE GENETICS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Hydrocephalus and arachnoid cysts

(2011) Juan F. Martínez-Lage et al.   CHILDS NERVOUS SYSTEM

Muscular dystrophies due to glycosylation defects

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

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

(2011) Nigel F Clarke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Angiogenic sprouting into neural tissue requires Gpr124, an orphan G protein-coupled receptor

(2011) K. D. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GPR124, an orphan G protein-coupled receptor, is required for CNS-specific vascularization and establishment of the blood-brain barrier

(2011) M. Cullen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Three-Dimensional Regulation of Radial Glial Functions by Lis1-Nde1 and Dystrophin Glycoprotein Complexes

(2011) Ashley S. Pawlisz et al.   PLOS BIOLOGY

Characterization of site-specific O-glycan structures within the mucin-like domain of α-dystroglycan from human skeletal muscle

(2010) Johanna Nilsson et al.   GLYCOBIOLOGY

Site Mapping and Characterization ofO-Glycan Structures on α-Dystroglycan Isolated from Rabbit Skeletal Muscle

(2010) Stephanie H. Stalnaker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding

(2010) T. Yoshida-Moriguchi et al.   SCIENCE

Zebrafish models for human FKRP muscular dystrophies

(2009) Genri Kawahara et al.   HUMAN MOLECULAR GENETICS

Ethnically diverse causes of Walker-Warburg syndrome (WWS):FCMDmutations are a more common cause of WWS outside of the Middle East

(2008) M. Chiara Manzini et al.   HUMAN MUTATION