Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
2014 · Acta Neuropathologica Communications · 92 citations
https://doi.org/10.1186/2051-5960-2-44
E
Edoardo Malfatti
Inserm(FR)
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Edoardo Malfatti is an academic researcher from Inserm. The author has contributed to research in topics: Muscle Physiology and Disorders & Cardiomyopathy and Myosin Studies & Neurogenetic and Muscular Disorders Research. The author has an h-index of 30, co-authored 190 publications.
ORCID: 0000-0001-7871-8600Papers by this author
worksMyopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
2023 · Acta Neuropathologica Communications · 40 citations
https://doi.org/10.1186/s40478-023-01657-z
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
2024 · Nature Genetics · 30 citations
https://doi.org/10.1038/s41588-023-01651-0
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
2024 · Nature Communications · 27 citations
https://doi.org/10.1038/s41467-024-49950-2
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
2020 · Neuromuscular Disorders · 24 citations
https://doi.org/10.1016/j.nmd.2020.09.032
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
2019 · Nature Communications · 21 citations
https://doi.org/10.1038/s41467-019-09111-2
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