Expanding the phenotype of GMPPB mutations. (Q48329373)

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29 February 2020

title

Expanding the phenotype of GMPPB mutations (English)

1 reference

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29 February 2020

1 reference

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29 February 2020

Macarena Cabrera Serrano

1 reference

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29 February 2020

1 reference

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29 February 2020

Nigel F Clarke

1 reference

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29 February 2020

Carolyn M Sue

1 reference

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29 February 2020

Roula Ghaoui

1 reference

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29 February 2020

Gianina Ravenscroft

1 reference

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29 February 2020

Russell D Johnsen

1 reference

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29 February 2020

Mark R Davis

1 reference

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29 February 2020

Alastair Corbett

1 reference

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29 February 2020

Stephen Reddel

1 reference

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29 February 2020

Christina Liang

1 reference

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29 February 2020

Leigh B Waddell

1 reference

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29 February 2020

Simranpreet Kaur

1 reference

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29 February 2020

Monkol Lek

1 reference

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29 February 2020

Daniel G MacArthur

1 reference

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29 February 2020

Phillipa J Lamont

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29 February 2020

language of work or name

English

0 references

publication date

12 February 2015

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29 February 2020

1 reference

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29 February 2020

volume

138

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29 February 2020

issue

Pt 4

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29 February 2020

page(s)

836-844

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Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

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%2FAWV013

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

GENCODE: producing a reference annotation for ENCODE

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Dolichol-phosphate mannose synthase: structure, function and regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013

Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV013