FG
Francesca Gualandi
Research areas: Biochemistry, Genetics and Molecular Biology · Molecular Biology · Muscle Physiology and Disorders · Genomics and Rare Diseases · Neurogenetic and Muscular Disorders Research
0000-0001-9551-057X
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Publications (142)
- Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy Save
- Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report 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
- Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias Save
- Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts Save
- Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy Save
- Brugada Syndrome: More than a Monogenic Channelopathy Save
- New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients Save
- Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family Save
- Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene Save
- Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? Save
- A novel mutation of BEST1 gene in Best disease Save
- Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome? Save
- Ethnicity-related DMD genotype landscapes in European and non-European countries Save
- Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients Save
- Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation Save
- Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction Save
- Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases Save
- Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes Save
- Corrigendum to: “Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression”. [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138–1147.] (Biochimica et Biophysica Ac… Save