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GMPPB gene

Known as: GMPP-BETA, GDP-mannose pyrophosphorylase B, GMPPB 
 
National Institutes of Health

Papers overview

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2017
2017
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years… Expand
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2016
2016
Objective: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression… Expand
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Review
2016
Review
2016
Background Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of… Expand
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Highly Cited
2015
Highly Cited
2015
Congenital myasthenic syndromes are associated with impairments in neuromuscular transmission. Belaya et al. show that mutations… Expand
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2015
2015
Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently… Expand
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2015
2015
Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with… Expand
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2015
2015
Dystroglycanopathies are characterized by deficient O-mannosyl glycosylation of α-dystroglycan (αDG) and represent an expanding… Expand
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2015
2015
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular… Expand
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2015
2015
OBJECTIVE: We describe four patients with mutations in GMPPB and compare genotype and phenotype with previously reported patients… Expand
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2014
2014
The alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha… Expand
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