Associated Papers
Live cell optical super-resolution microscopy of dystroglycan mutants as a model for dystroglycanopathies in multiple cell lines.
Sciandra F et al.
Frontiers in Molecular Biosciences, 2025
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
A molecular overview of the primary dystroglycanopathies.
Brancaccio A
Journal of Cellular and Molecular Medicine, 2019
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
König E et al.
Bmc Medical Genetics, 2017
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-1.pdf
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