A5056065398- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Autoimmune Neurological Disorders and Treatments
- Lysosomal Storage Disorders Research
- Cerebrovascular and genetic disorders
- Neurological diseases and metabolism
- Autophagy in Disease and Therapy
- Alzheimer's disease research and treatments
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
University of Milan
2021-2025
Fondazione IRCCS Istituto Neurologico Carlo Besta
2025
Ferrari (Italy)
2021-2022
Ospedale Maggiore
2021-2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2021-2022
Abstract Background In recent years, the seed amplification assay (SAA) has enabled identification of pathological TDP-43 in cerebrospinal fluid (CSF) and olfactory mucosa (OM) patients with genetic forms frontotemporal dementia (FTD) amyotrophic lateral sclerosis (ALS). Here, we investigated seeding activity OM samples collected from sporadic ALS. Methods were (a) motor neuron diseases (MND), including spinal ALS ( n = 35), bulbar 18), primary 10), facial onset sensory neuronopathy 2); (b)...
Abstract Background Parkinsonian features have been described in patients harboring variants nuclear genes encoding for proteins involved mitochondrial DNA maintenance, such as TWNK . Objectives The aim was to screen an Italian cohort of Parkinson's disease (PD) and assess the occurrence parkinsonism presenting with ‐related autosomal dominant progressive external ophthalmoplegia ( ‐adPEO). Methods Genomic 263 consecutively collected PD who underwent diagnostic genetic testing analyzed a...