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Stefania Corti

University of Ferrara · IT
Area of research
Genetics · Neurology
Research interest
Research interests include Amyotrophic lateral sclerosis, Biology, Medicine, Genetics, C9orf72, and Gene.
h-index
citations
2,222
works
26
NIH funding
primary concept
email

Recent publications

Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
Neurology Genetics 2025cited by 1position: lastdoi
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Nature Communications 2024cited by 28position: middledoi
Lewy pathology formation in patient-derived <i>GBA1</i> Parkinson’s disease midbrain organoids
Brain 2024cited by 16position: middledoi
Mechanism-Free Repurposing of Drugs For&amp;nbsp;C9orf72-related ALS/FTD Using Large-Scale Genomic Data
SSRN Electronic Journal 2024cited by 0position: middledoi
Mechanism-Free Repurposing of Drugs For&amp;nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
SSRN Electronic Journal 2024cited by 0position: middledoi
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
EClinicalMedicine 2023cited by 44position: middledoi
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
International Journal of Molecular Sciences 2023cited by 14position: middledoi
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Nature Genetics 2022cited by 4position: middledoi
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Nature Genetics 2021cited by 538position: middledoi
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
JAMA Neurology 2021cited by 80position: middledoi
miR-129-5p: A key factor and therapeutic target in amyotrophic lateral sclerosis
Progress in Neurobiology 2020cited by 71position: middledoi
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow
Nature Communications 2020cited by 56position: middledoi
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
PubMed 2020cited by 36position: middledoi
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Muscle & Nerve 2016cited by 123position: middledoi
Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS
Scientific Reports 2016cited by 104position: middledoi
Motor neurons with differential vulnerability to degeneration show distinct protein signatures in health and ALS
Neuroscience 2015cited by 85position: middledoi
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
Journal of Neurology 2015cited by 51position: middledoi
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Neuron 2014cited by 369position: middledoi
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study
Neurobiology of Aging 2014cited by 19position: middledoi
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Human Molecular Genetics 2013cited by 141position: middledoi
Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis
Cellular and Molecular Life Sciences 2013cited by 93position: middledoi
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis
Neurobiology of Aging 2013cited by 34position: middledoi
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Brain 2012cited by 98position: middledoi
<i>Ubiquilin 2</i>mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
Journal of Neurology Neurosurgery & Psychiatry 2012cited by 88position: middledoi
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
Neurobiology of Aging 2012cited by 85position: middledoi
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
Neurobiology of Aging 2012cited by 44position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

· 5 papers (2013–2020)Giacomo P. Comi · University of Ferrara5 papers (2012–2025)Francesca Magri · University of Ferrara3 papers (2012–2025)Dario Ronchi · University of Ferrara3 papers (2012–2025)Eva Hedlund · Stockholm University3 papers (2013–2016)Pamela Milani · Massachusetts Institute of Technology2 papers (2012–2013)Laura H. Comley · Karolinska Institutet2 papers (2015–2016)Mafalda Rizzuti · University of Ferrara2 papers (2012–2020)Lucia Corrado · London School of Hygiene & Tropical Medicine2 papers (2012–2013)Letizia Mazzini · John Wiley & Sons (United States)2 papers (2012–2013) · 2 papers (2013–2023) · 2 papers (2012–2013) · 2 papers (2013–2016)Gianni Sorarú · University of Padua2 papers (2012–2013) · 2 papers (2012–2013) · 2 papers (2012–2023)Susanne Nichterwitz · University of California, Los Angeles2 papers (2015–2016)Sandra D’Alfonso · Università degli Studi del Piemonte Orientale “Amedeo Avogadro”2 papers (2012–2013) · 2 papers (2012–2013)Antonia Ratti · Istituti di Ricovero e Cura a Carattere Scientifico2 papers (2012–2013)