Area of research
Genetics · Neurology
Research interest
Research interests include Amyotrophic lateral sclerosis, Biology, Medicine, Genetics, C9orf72, and Gene.
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Lewy pathology formation in patient-derived <i>GBA1</i> Parkinson’s disease midbrain organoids
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
miR-129-5p: A key factor and therapeutic target in amyotrophic lateral sclerosis
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS
Motor neurons with differential vulnerability to degeneration show distinct protein signatures in health and ALS
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
<i>Ubiquilin 2</i>mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia