ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

(2012) Louise Devisme et al.   BRAIN

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

(2012) Tony Roscioli et al.   NATURE GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11–13 November 2011, Naarden, The Netherlands

(2012) Susan C. Brown et al.   NEUROMUSCULAR DISORDERS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

The dystrophin–glycoprotein complex in brain development and disease

(2012) Adrian Waite et al.   TRENDS IN NEUROSCIENCES

The proteoglycan–dystrophin complex in genetic cardiomyopathies—lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)

(2011) Ali Yilmaz et al.   Clinical Research in Cardiology

Dystroglycanopathies: coming into focus

(2011) Caroline Godfrey et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mammalian O-mannosylation: unsolved questions of structure/function

(2011) Stephanie H Stalnaker et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Glycomic Analyses of Mouse Models of Congenital Muscular Dystrophy

(2011) Stephanie H. Stalnaker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

(2011) Yuji Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

(2010) M. Lommel et al.   NEUROLOGY

Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

(2010) Martin Brockington et al.   PLoS One

OPHTHALMOLOGICAL FINDINGS IN A NEW SYNDROME WITH MUSCLE, EYE AND BRAIN INVOLVEMENT

(2009) CHRISTINA RAITTA et al.   ACTA OPHTHALMOLOGICA

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

P097 A new locus for an autosomal recessive congenital muscular dystrophy without brain involvement maps to chromosome 7p21

(2009) S. Cirak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

(2009) H Bourteel et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

(2009) E. Mercuri et al.   NEUROLOGY

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

(2008) Cecilia Jimenez-Mallebrera et al.   BRAIN PATHOLOGY

Synthesis of CDP-Activated Ribitol for Teichoic Acid Precursors in Streptococcus pneumoniae

(2008) S. Baur et al.   JOURNAL OF BACTERIOLOGY