Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. (Q34699458)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Madeleine Durbeej

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

Current Opinion in Genetics & Development

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

349-361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076680%20AND%20SRC:MED&resulttype=core&format=json

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Muscular dystrophies and the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The sarcoglycan complex in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Molecular basis of muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Two forms of mouse syntrophin, a 58 kd dystrophin-associated protein, differ in primary structure and tissue distribution.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

A stoichiometric complex of neurexins and dystroglycan in brain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophin protects the sarcolemma from stresses developed during muscle contraction

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

SH3 domain-mediated interaction of dystroglycan and Grb2

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Differential association of syntrophin pairs with the dystrophin complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Specific interactions between the syntrophin PDZ domain and voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The 87K postsynaptic membrane protein from Torpedo is a protein-tyrosine kinase substrate homologous to dystrophin.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrobrevin and dystrophin: an interaction through coiled-coil motifs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophins in vertebrates and invertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Conservation of components of the dystrophin complex in Drosophila.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Conservation and novelty in the evolution of cell adhesion and extracellular matrix genes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

X chromosome-linked muscular dystrophy (mdx) in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The capacity of mdx mouse diaphragm muscle to do oscillatory work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

MyoD is required for myogenic stem cell function in adult skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Myogenic stem cell function is impaired in mice lacking the forkhead/winged helix protein MNF

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

An alternative dystrophin transcript specific to peripheral nerve

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

A novel dystrophin isoform is required for normal retinal electrophysiology.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Transient expression of Dp140, a product of the Duchenne muscular dystrophy locus, during kidney tubulogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Differential expression of dystrophin isoforms in strains of mdx mice with different mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Immunocytochemical studies of aquaporin 4 in the skeletal muscle of mdx mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Skeletal muscle function and water permeability in aquaporin-4 deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Targeted disruption of the neuronal nitric oxide synthase gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

mdx muscle pathology is independent of nNOS perturbation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Caveolin-3 is not an integral component of the dystrophin glycoprotein complex.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Caveolin-3 deficiency causes muscle degeneration in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Biochemical characterization of the epithelial dystroglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Non-muscle alpha-dystroglycan is involved in epithelial development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Distribution of dystroglycan in normal adult mouse tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

A role for dystroglycan in basement membrane assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Integrins: versatility, modulation, and signaling in cell adhesion

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

The alpha7beta1 integrin in muscle development and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dystrophic muscle in mice chimeric for expression of alpha5 integrin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Sarcospan-deficient mice maintain normal muscle function

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Sarcoglycan isoforms in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Ecto-ATPase activity of alpha-sarcoglycan (adhalin)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Muscle degeneration without mechanical injury in sarcoglycan deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900309-X

7 January 2021