Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

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

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

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

(2013) Farid Radmanesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Sebahattin Cirak et al.   BRAIN

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

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

(2013) Dan Doherty et al.   LANCET NEUROLOGY

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

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

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

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

(2012) Carlo C. Quattrocchi et al.   NEUROGENETICS

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

(2011) A. Poretti et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

(2010) Nadia Bahi-Buisson et al.   BRAIN

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

(2010) Uluc Yis et al.   NEUROMUSCULAR DISORDERS

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

CEREBELLAR MIGRATION DEFECTS IN AICARDI SYNDROME: AN EXTENSION OF THE NEUROPATHOLOGICAL SPECTRUM

(2009) Thora S. Steffensen et al.   Fetal and Pediatric Pathology

CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE  -DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY

(2009) S. Messina et al.   NEUROLOGY

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

(2009) E. Mercuri et al.   NEUROLOGY

Neuroimaging aspects of Aicardi syndrome

(2008) Bobbi Hopkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

Global Developmental Delay and Mental Retardation or Intellectual Disability: Conceptualization, Evaluation, and Etiology

(2008) Michael Shevell   PEDIATRIC CLINICS OF NORTH AMERICA