Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
2017 · Gene · 30 citations
https://doi.org/10.1016/j.gene.2017.07.017
E
Emanuele Bellacchio
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Emanuele Bellacchio is an academic researcher from Bambino Gesù Children's Hospital. The author has contributed to research in topics: Mitochondrial Function and Pathology & Genetic Neurodegenerative Diseases & Metabolism and Genetic Disorders. The author has an h-index of 35, co-authored 144 publications.
ORCID: 0000-0002-2757-849XPapers by this author
worksClinical and molecular characterization of patients with adenylosuccinate lyase deficiency
2021 · Orphanet Journal of Rare Diseases · 29 citations
https://doi.org/10.1186/s13023-021-01731-6
Expanding the clinical phenotype of IARS2-related mitochondrial disease
2018 · BMC Medical Genetics · 27 citations
https://doi.org/10.1186/s12881-018-0709-3
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype
2020 · Molecular Genetics and Metabolism Reports · 7 citations
https://doi.org/10.1016/j.ymgmr.2020.100592
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma
2025 · Nature Communications · 6 citations
https://doi.org/10.1038/s41467-025-59871-3
MM cell lines have PCNA in their cytosol.
2015 · Figshare · 0 citations
https://doi.org/10.1371/journal.pone.0070430.g004
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