Viviana Pensato
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Explore the profile of Viviana Pensato including associated specialties, affiliations and a list of published articles.
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36
Citations
971
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Recent Articles
1.
Saez-Atienzar S, Souza C, Chia R, Beal S, Lorenzini I, Huang R, et al.
Cell Genom
. 2024 Oct;
4(11):100679.
PMID: 39437787
Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which...
2.
Cozzi M, Magri S, Tedesco B, Patelli G, Ferrari V, Casarotto E, et al.
Cell Death Dis
. 2024 Sep;
15(9):692.
PMID: 39333504
Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering...
3.
Giagnorio E, Malacarne C, Cavalcante P, Scandiffio L, Cattaneo M, Pensato V, et al.
Int J Mol Sci
. 2023 Mar;
24(5).
PMID: 36902041
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive, irreversible loss of upper and lower motor neurons (UMNs, LMNs). MN axonal dysfunctions are emerging as relevant pathogenic events since the...
4.
Brusati A, Ratti A, Pensato V, Peverelli S, Gentilini D, Bella E, et al.
Front Genet
. 2022 Dec;
13:1055313.
PMID: 36568378
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and/or lower motor neurons and characterized by complex etiology. Familial cases show high genetic heterogeneity and sporadic cases (90%) are...
5.
Bonanno S, Cavalcante P, Salvi E, Giagnorio E, Malacarne C, Cattaneo M, et al.
Front Cell Neurosci
. 2022 Aug;
16:982760.
PMID: 36035258
Background And Objectives: Multisystem involvement in spinal muscular atrophy (SMA) is gaining prominence since different therapeutic options are emerging, making the way for new SMA phenotypes and consequent challenges in...
6.
Bella E, Bersano E, Bruzzone M, Gellera C, Pensato V, Lauria G, et al.
Neurology
. 2022 Aug;
99(18):e2052-e2062.
PMID: 35985819
Background And Objectives: variants in patients with amyotrophic lateral sclerosis (ALS) have been associated with peculiar clinical features and disease progression but rarely with cognitive and behavioral impairment. This study...
7.
Martinelli I, Zucchi E, Pensato V, Gellera C, Traynor B, Gianferrari G, et al.
Neurobiol Aging
. 2022 Jun;
118:124-128.
PMID: 35768328
Mutations in FUS gene have been described classically in young ALS patients with aggressive disease course. Here we report a large family carrying a missense mutation c.1520 G>A in FUS...
8.
Ghezzi A, Martinelli I, Carra S, Mediani L, Zucchi E, Simonini C, et al.
Neurol Sci
. 2022 Jun;
43(10):6087-6090.
PMID: 35731316
Background: ALS symptoms have been previously described only in the context of ATXN2 CAG expansions, whereas missense mutations of the gene have never been described in ALS patients. Case Presentation:...
9.
Caputo M, Zucchi E, Martinelli I, Gianferrari G, Simonini C, Amedei A, et al.
Neurol Sci
. 2021 Oct;
43(2):1419-1421.
PMID: 34665352
Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we...
10.
Johnson J, Miller D, Li R, Kumaran R, Alahmady N, Cookson M, et al.
JAMA Neurol
. 2021 Aug;
78(10):1236-1248.
PMID: 34459874
Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective: To identify the...