CP
Chiara Passarelli
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Muscle Physiology and Disorders · Genomics and Rare Diseases · Immunodeficiency and Autoimmune Disorders
0000-0001-7919-4626
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Publications (33)
- Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations Save
- Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review Save
- Adult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic Save
- BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review Save
- Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients Save
- Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome Save
- Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency Save
- Congenital heart defects in molecularly proven Kabuki syndrome patients Save
- Transcriptional and epigenetic analyses of the DMD locus reveal novel cis ‑acting DNA elements that govern muscle dystrophin expression Save
- ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study Save
- Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. Save
- Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. Save
- POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. Save
- Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. Save
- Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Save
- Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Save
- Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Save
- Biodistribution studies of polymeric nanoparticles for drug delivery in mice. Save
- Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Save
- Biomarkers in rare neuromuscular diseases Save