Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
about
Candidate-gene testing for orphan limb-girdle muscular dystrophiesClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementCongenital basis of posterior fossa anomaliesNeurological aspects of human glycosylation disordersA developmental and genetic classification for malformations of cortical development: update 2012Congenital muscular dystrophies: a brief reviewPrevalence of congenital muscular dystrophy in Italy: a population studyThe zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.Diagnostic approach to the congenital muscular dystrophies.Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleMolecular genetics of neuronal migration disorders.New dystrophin/dystroglycan interactors control neuron behavior in Drosophila eye.Three-dimensional regulation of radial glial functions by Lis1-Nde1 and dystrophin glycoprotein complexes.Polymicrogyria: pathology, fetal origins and mechanisms.Neurology of inherited glycosylation disorders.Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalitiesGenomic variants and variations in malformations of cortical development.What disorders of cortical development tell us about the cortex: one plus one does not always make twoNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseExome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyMuscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) miceISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Developmental differences of the major forebrain commissures in lissencephalies.Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.Golgi glycosylation and human inherited diseases.Glia unglued: how signals from the extracellular matrix regulate the development of myelinating glia.Developmental disorders of the midbrain and hindbrain.The ever-expanding spectrum of congenital muscular dystrophies.Diffusion tensor imaging and fiber tractography in brain malformations.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.Cerebellar cysts in children: a pattern recognition approach.Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencingHomozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
P2860
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P2860
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@ast
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@en
type
label
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@ast
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@en
prefLabel
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@ast
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@en
P2093
P356
P1433
P1476
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
@en
P2093
A James Barkovich
Adnan Manzur
Andrea Klein
Beril Talim
Caroline Godfrey
Cheryl Longman
Emma Clement
Eugenio Mercuri
Frances Cowan
Francesco Muntoni
P2860
P304
P356
10.1002/ANA.21482
P577
2008-11-01T00:00:00Z