Maura Brunetti
A5101741471- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Cancer-related gene regulation
- Prion Diseases and Protein Misfolding
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Genetic Associations and Epidemiology
- Alzheimer's disease research and treatments
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Sarcoidosis and Beryllium Toxicity Research
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Autoimmune and Inflammatory Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
National Research Council
2024
Institute of Cognitive Sciences and Technologies
2024
University of Turin
2016-2022
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2016-2022
Neuroscience Institute
2022
Background A genetic diagnosis in Amyotrophic Lateral Sclerosis (ALS) can inform counselling, prognosis and, the light of incoming gene-targeted therapy, management. However, conventional testing strategies are often costly and time-consuming. Objective To evaluate diagnostic yield advantages whole-genome sequencing (WGS) as a standard test for ALS. Methods In this population-based cohort study, 1043 ALS patients from Piemonte Valle d’Aosta Register 755 healthy individuals were screened by...
TARDBP patients are considered particularly prone to cognitive involvement, but no systematic studies of impairment in available. The aim this article was depict depth the cognitive-behavioral characteristics a cohort with amyotrophic lateral sclerosis (ALS) carrying pathogenetic variants followed by an ALS referral center.
Objective To detect the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) carrying an intermediate ATXN2 polyQ number repeats in a large population-based series Italian ALS. Methods The study population includes 1330 ALS identified through Piemonte and Valle d’Aosta Register for ALS, diagnosed between 2007 2019 not C9orf72, SOD1, TARDBP FUS mutations. Controls were 1274 age, sex geographically matched subjects, patients’ general practitioners. Results We found 42...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350 individuals. Genetic association studies have established ALS as multifactorial with heritability estimated at ~61%, and recent show prominent role for rare variation its genetic architecture. To identify variants associated onset we performed exome array genotyping 4,244 cases 3,106 controls from European cohorts. In this largest exome-wide study of to date, single-variant testing,...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability of around 50%. DNA methylation patterns can serve as biomarkers (past) exposures and progression, well providing potential mechanism that mediates genetic or environmental risk. Here, we present blood-based epigenome-wide association study (EWAS) meta-analysis in 10,462 samples (7,344 ALS patients 3,118 controls), representing the largest case-control for any to date. We...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted cross-ancestry GWAS ALS including 29,612 patients 122,656 controls which identified 15 loci ALS. When combined 8,953 whole-genome sequenced individuals (6,538 patients, 2,415 controls) the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures we prioritized...
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also cognitive and/or behavioral changes. Mendelian forms ALS comprise approximately 10-15% cases. The majority however considered sporadic, but with high contribution genetic risk factors. To explore the somatic mutations epigenetic changes to disease risk, we performed whole genome sequencing methylation analyses using samples from multiple tissues on...