MF
Maria Sofia Falzarano
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Muscle Physiology and Disorders · Neurogenetic and Muscular Disorders Research · Genomics and Rare Diseases
0000-0002-5619-628X
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Publications (53)
- A Novel NKAP Gene Frameshift Mutation in a Sardinian Family Causes Early Cell Death and Secondary Skewed X-Chromosome Inactivation and Associates with Multiple Male Miscarriages Save
- MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping Save
- Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells. Save
- mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Save
- Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases. Save
- RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing. Save
- Dystrophin involvement in peripheral circadian SRF signalling. Save
- Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients. Save
- Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy Save
- Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4. Save
- Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Save
- Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature Save
- Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. Save
- A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. Save
- Nanodiagnostics and Nanodelivery Applications in Genetic Alterations. Save
- Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression. Save
- Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. Save
- Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype. Save
- Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. Save
- Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Save