Comparison of brain MRI findings with language and motor function in the dystroglycanopathies

scientific article published on 13 January 2017

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/WNL.0000000000003609
P932PMC publication ID5317381
P698PubMed publication ID28087826

P50authorWilliam B. DobynsQ30445602
Katherine MathewsQ60664780
P2093author name stringM Bridget Zimmerman
Carrie M Stephan
Anne M Wallace
Brianna N Brun
Julia A Collison
Katie M Laubscher
Shelley R H Mockler
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanQ28249364
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophyQ28268625
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsQ28297242
Diagnostic approach to the congenital muscular dystrophiesQ30767612
The neurogenetics of lissencephalyQ31004861
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationQ33391488
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.Q34307933
Brain MR in Fukuyama congenital muscular dystrophy.Q34390453
A dystroglycan mutation associated with limb-girdle muscular dystrophy.Q34767085
Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American AssoQ35304917
Recessive LAMC3 mutations cause malformations of occipital cortical developmentQ35898589
Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.Q36439974
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationQ36832351
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblastQ37270980
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspectsQ37426320
Dystroglycanopathies: coming into focusQ37852376
Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteinsQ41874854
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycanQ41921630
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.Q42524154
Congenital muscular dystrophies with cognitive impairment. A population study.Q44505558
Neuroimaging manifestations and classification of congenital muscular dystrophies.Q46018845
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in KoreaQ48133363
Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiencyQ48516610
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesQ48666364
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.Q51923072
Muscle-eye-brain disease (MEB)Q52067369
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesionsQ56232780
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsQ61794269
Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerationsQ70859118
Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive formQ71051493
P433issue7
P407language of work or nameEnglishQ1860
P304page(s)623-629
P577publication date2017-01-13
P1433published inNeurologyQ1161692
P1476titleComparison of brain MRI findings with language and motor function in the dystroglycanopathies
P478volume88

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cites work (P2860)
Q99207720International consensus recommendations on the diagnostic work-up for malformations of cortical development
Q52097470Lissencephaly: Expanded imaging and clinical classification.