Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Mitochondrial Function and Pathology, Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, and Metabolism and Genetic Disorders.
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
NGS in Hereditary Ataxia: When Rare Becomes Frequent
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Genotype–phenotype correlations in recessive titinopathies
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study