(Q54498102)

30 May 2018

title

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. (English)

1 reference

30 May 2018

author

Sue Brown

9

1 reference

30 May 2018

author name string

M R Ackroyd

1

1 reference

30 May 2018

L Skordis

2

1 reference

30 May 2018

M Kaluarachchi

3

1 reference

30 May 2018

J Godwin

4

1 reference

30 May 2018

S Prior

5

1 reference

30 May 2018

M Fidanboylu

6

1 reference

30 May 2018

R J Piercy

7

1 reference

30 May 2018

F Muntoni

8

1 reference

30 May 2018

language of work or name

English

0 references

publication date

20 January 2009

1 reference

30 May 2018

published in

Brain

1 reference

30 May 2018

volume

132

1 reference

30 May 2018

issue

Pt 2

1 reference

30 May 2018

page(s)

439-451

1 reference

30 May 2018

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Dystroglycan: from biosynthesis to pathogenesis of human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Biomechanical properties of native basement membranes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Dystroglycan: important player in skeletal muscle and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Diagnostic criteria for Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Embryonic synthesis of the inner limiting membrane and vitreous body.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Cre-mediated chromosome loss in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Differentiation and developmental origin of cerebellar granule neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyl transferase 1 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

alpha-dystroglycan isoforms are differentially distributed in adult rat retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Defective glycosylation in congenital muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

The congenital muscular dystrophies in 2004: a century of exciting progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Evolutionary conservation of the dystrophin central rod domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN335

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWN335

1 reference

30 May 2018

1 reference

30 May 2018