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Publications by Giulia Signorino
A Dystroglycan Mutation (p.Cys667Phe) Associated to Muscle-Eye-Brain Disease With Multicystic Leucodystrophy Results in ER-retention of the Mutant Protein
Human Mutation
Genetics
Cover Image, Volume 39, Issue 2
Human Mutation
Genetics
Related publications
POMGnT1 Mutation and Phenotypic Spectrum in Muscle-Eye-Brain Disease
Journal of Medical Genetics
Genetics
Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated With Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients With Tarui Disease.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Agrin Is a High-Affinity Binding Protein of Dystroglycan in Non-Muscle Tissue
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Allergic Eye Disease Associated With Mastocytosis
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Characterization of Erasin (UBXD2): A New ER Protein That Promotes ER-associated Protein Degradation
Journal of Cell Science
Cell Biology
Brain Connectivity Associated With Muscle Synergies in Humans
Journal of Neuroscience
Neuroscience
Creutzfeldt-Jakob Disease Associated With a Missense Mutation at Codon 200 of the Prion Protein Gene in Brazil
Dementia e Neuropsychologia
Gerontology
Geriatrics
Neurology
Sensory Systems
Cognitive Neuroscience
Mutations in the FKRP Gene Can Cause Muscle-Eye-Brain Disease and Walker-Warburg Syndrome
Journal of Medical Genetics
Genetics
Identification of New Dystroglycan Complexes in Skeletal Muscle
PLoS ONE
Multidisciplinary
