Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Parkinson's Disease Mechanisms and Treatments, and Neurological diseases and metabolism.
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Genetic variability in sporadic amyotrophic lateral sclerosis
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
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
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Focus on the heterogeneity of amyotrophic lateral sclerosis
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Poly(GP) proteins are a useful pharmacodynamic marker for <i>C9ORF72</i> -associated amyotrophic lateral sclerosis
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
Phosphorylated neurofilament heavy chain: A biomarker of survival for <scp><i>C9ORF</i></scp><i>72</i>‐associated amyotrophic lateral sclerosis
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories
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
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
<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