(Q39020042)

8 September 2017

title

Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy (English)

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8 September 2017

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Tobias Geis

1

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8 September 2017

Klaus Marquard

2

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8 September 2017

Tanja Rödl

3

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8 September 2017

Christof Reihle

4

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8 September 2017

Sophie Schirmer

5

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8 September 2017

Thekla von Kalle

6

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8 September 2017

Antje Bornemann

7

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8 September 2017

Ute Hehr

8

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8 September 2017

Markus Blankenburg

9

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8 September 2017

publication date

20 September 2013

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8 September 2017

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8 September 2017

volume

14

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8 September 2017

issue

3-4

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8 September 2017

page(s)

205-213

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Dystroglycan: from biosynthesis to pathogenesis of human disease.

8 September 2017

cites work

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https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Mutagenesis at the alpha-beta interface impairs the cleavage of the dystroglycan precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-013-0374-9

The alpha-dystroglycan-beta-dystroglycan complex. Membrane organization and relationship to an agrin receptor

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24052401

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24052401

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-013-0374-9

1 reference

8 September 2017

1 reference