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Mirella Filocamo

Istituto Giannina Gaslini

186

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4530

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Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.

2021 Scientific Reports
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

2020 Human Molecular Genetics
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A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

2019 Human Molecular Genetics
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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

2018 Italian Journal of Pediatrics
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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

2018 Italian Journal of Pediatrics
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Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

2018 Cell Death and Disease
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The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers

2018 European Journal of Human Genetics
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UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease

2018 Blood Cells Molecules and Diseases
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Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

2018 Journal of Neurology
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FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

2018 Human Molecular Genetics
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