Associated Papers
Limb-girdle muscular dystrophy D3: The first North American family and review of the literature.
Deardorff AS et al.
Journal of the Neurological Sciences, 2025
Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population.
Demicheli E et al.
European Journal of Neurology, 2025
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N et al.
Journal of Neurology, 2025
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe.
Vicente LM et al.
Journal of the Neurological Sciences, 2020
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.
Malfatti E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
hnRNPDL Phase Separation Is Regulated by Alternative Splicing and Disease-Causing Mutations Accelerate Its Aggregation.
Batlle C et al.
Cell Reports, 2020
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
Berardo A et al.
Journal of Neurology, 2019
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
Sun Y et al.
Journal of Neurology, 2019
AMYCO: evaluation of mutational impact on prion-like proteins aggregation propensity.
Iglesias V et al.
Bmc Bioinformatics, 2019
The prion-like RNA-processing protein HNRPDL forms inherently toxic amyloid-like inclusion bodies in bacteria.
Navarro S et al.
Microbial Cell Factories, 2015
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Vieira NM et al.
Human Molecular Genetics, 2014
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