Associated Papers
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Magri F et al.
International Journal of Molecular Sciences, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Magri F et al.
Muscle & Nerve, 2017
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C et al.
Neurology, 2015
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