CT
Cecilia Trabanelli
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Muscle Physiology and Disorders · Neurogenetic and Muscular Disorders Research
0000-0001-7107-0338
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Publications (32)
- Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene Save
- Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Save
- Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies. Save
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Save
- Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome. Save
- Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript. Save
- Paternal germline mosaicism in collagen VI related myopathies. Save
- Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. Save
- Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report. Save
- A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. Save
- Exon skipping-mediated dystrophin reading frame restoration for small mutations. Save
- A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. Save
- Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories. Save
- Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. Save
- Reactivation of infectious simian virus 40 from normal human tissues. Save
- Prevalence of liver tumours in HIV-1 tat-transgenic mice treated with urethane. Save
- Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. Save
- Tumor-host interaction mediates the regression of BK virus-induced vascular tumors in mice: involvement of transforming growth factor-beta1. Save
- Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Save
- MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Save