Muscular Dystrophy With Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Journal of Neuromuscular Diseases - Netherlands
doi 10.3233/jnd-170255
Full Text
Abstract

Available in full text

Categories
Neurology
Date
Authors
Publisher

IOS Press

Related search

Congenital Muscular Dystrophy and .ALPHA.-dystroglycanopathy

Clinical Neurology
Neurology
2008English

uPA Deficiency Exacerbates Muscular Dystrophy inMDXmice

Journal of Cell Biology
MedicineCell Biology
2007English

Bone Dystrophy Associated With Muscular Dystrophy

BMJ
1951English

Three Novel Serum Biomarkers, miR-1, miR-133a, and miR-206 for Limb-Girdle Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, and Becker Muscular Dystrophy

Environmental Health and Preventive Medicine
MedicineEnvironmentalPublic HealthOccupational Health
2014English

Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy

Frontiers in Genetics
GeneticsMolecular Medicine
2018English

Muscular Dystrophy

BMJ
1963English

Novel Synonymous Substitution in POMGNT1 Promotes Exon Skipping in a Patient With Congenital Muscular Dystrophy

Journal of Human Genetics
Genetics
2008English

A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI

Brain and Development
Child HealthDevelopmental NeurosciencePerinatologyNeurologyMedicinePediatrics
2009English

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders
Child HealthNeurologyPediatricsPerinatologyGenetics
2013English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy