scholarly article | Q13442814 |
P50 | author | William B. Dobyns | Q30445602 |
Katherine Mathews | Q60664780 | ||
P2093 | author name string | M Bridget Zimmerman | |
Carrie M Stephan | |||
Anne M Wallace | |||
Brianna N Brun | |||
Julia A Collison | |||
Katie M Laubscher | |||
Shelley R H Mockler | |||
P2860 | cites work | Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities | Q24323215 |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study | Q28238656 | ||
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy | Q28268625 | ||
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations | Q28297242 | ||
Diagnostic approach to the congenital muscular dystrophies | Q30767612 | ||
The neurogenetics of lissencephaly | Q31004861 | ||
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | Q33391488 | ||
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 Asso | Q35304917 | ||
Recessive LAMC3 mutations cause malformations of occipital cortical development | Q35898589 | ||
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 Correlation | Q36832351 | ||
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast | Q37270980 | ||
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects | Q37426320 | ||
Dystroglycanopathies: coming into focus | Q37852376 | ||
Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins | Q41874854 | ||
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan | Q41921630 | ||
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. | Q42524154 | ||
Congenital muscular dystrophies with cognitive impairment. A population study. | Q44505558 | ||
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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea | Q48133363 | ||
Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency | Q48516610 | ||
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies | Q48666364 | ||
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 lesions | Q56232780 | ||
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations | Q61794269 | ||
Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations | Q70859118 | ||
Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form | Q71051493 | ||
P433 | issue | 7 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 623-629 | |
P577 | publication date | 2017-01-13 | |
P1433 | published in | Neurology | Q1161692 |
P1476 | title | Comparison of brain MRI findings with language and motor function in the dystroglycanopathies | |
P478 | volume | 88 |