scholarly article | Q13442814 |
P2093 | author name string | Andrea Brancaccio | |
Ernesto Pavoni | |||
Bruno Giardina | |||
Francesca Sciandra | |||
Manuela Bozzi | |||
Enzo Ricci | |||
Giorgio Tasca | |||
Roberta Tittarelli | |||
P2860 | cites work | Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies | Q24651944 |
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy | Q28268625 | ||
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix | Q28296676 | ||
Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice | Q28590908 | ||
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies | Q30499359 | ||
Dysferlin and the plasma membrane repair in muscular dystrophy | Q33201061 | ||
Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan | Q33234933 | ||
Making sense of the limb-girdle muscular dystrophies | Q33701932 | ||
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. | Q34091913 | ||
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. | Q34699567 | ||
A dystroglycan mutation associated with limb-girdle muscular dystrophy. | Q34767085 | ||
Dystroglycan: important player in skeletal muscle and beyond | Q36051591 | ||
Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice | Q36276730 | ||
Alpha-dystroglycan, the usual suspect? | Q36313690 | ||
The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis | Q36592193 | ||
Functional diversity of dystroglycan | Q37419780 | ||
Dystroglycanopathies: coming into focus | Q37852376 | ||
Expanding the clinical spectrum of POMT1 phenotype. | Q41919581 | ||
Dystroglycan distribution in adult mouse brain: a light and electron microscopy study | Q42504975 | ||
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies | Q42524150 | ||
The structure of the N-terminal region of murine skeletal muscle alpha-dystroglycan discloses a modular architecture. | Q45028092 | ||
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. | Q51894973 | ||
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy | Q55880074 | ||
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
P921 | main subject | congenital disorder | Q727096 |
lessons learned | Q1673259 | ||
P304 | page(s) | 68-74 | |
P577 | publication date | 2011-10-20 | |
P1433 | published in | The open neurology journal | Q27722068 |
P1476 | title | An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients | |
P478 | volume | 5 |
Search more.