Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, and Parkinson's Disease Mechanisms and Treatments.
Long-Term Tofersen in <i>SOD1</i> Amyotrophic Lateral Sclerosis
Motor System Oligodendroglia Atlas Reveals Activation States Associated with Region-Specific Vulnerability in ALS
C9orf72 hexanucleotide repeat expansions impair microglial response in ALS
Tracing neuropathological signatures: <i>TARDBP</i> and <i>C9orf72</i> double mutations in a Sicilian family
Exploring perivascular epithelioid cell tumors (PEComas) in the CNS: insights from two case reports and a comprehensive literature review
The sense of antisense therapies in ALS
FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms
Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis
The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
CRISPR/Cas9 screen in human iPSC‐derived cortical neurons identifies NEK6 as a novel disease modifier of <i>C9orf72</i> poly(PR) toxicity
Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel <i>SOD1</i> mutation
Effect of neurofilament analysis on the diagnostic delay in amyotrophic lateral sclerosis
Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS
Amyotrophic lateral sclerosis: a clinical review
Serum neurofilament heavy chains as early marker of motor neuron degeneration