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Valeria Casiraghi

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Recent Articles
1.
Casiraghi V, Sorce M, Santangelo S, Invernizzi S, Bossolasco P, Lattuada C, et al.
Exp Neurol . 2024 Nov; 383:115057. PMID: 39536963
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterized neuropathologically by TDP-43 proteinopathy with loss of TDP-43 nuclear splicing activity and formation of cytoplasmic TDP-43 aggregates. The lack of...
2.
Casiraghi V, Milone I, Brusati A, Peverelli S, Doretti A, Poletti B, et al.
J Neurol Sci . 2024 Sep; 466:123210. PMID: 39241471
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative condition affecting upper and/or lower motor neurons and characterized neuropathologically by TDP-43 proteinopathy. Given its role in ALS pathobiology, it is currently...
3.
Santangelo S, Invernizzi S, Sorce M, Casiraghi V, Peverelli S, Brusati A, et al.
Hum Mol Genet . 2024 Sep; 33(21):1900-1907. PMID: 39222049
The hexanucleotide G4C2 repeat expansion (HRE) in C9ORF72 gene is the major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leading to both loss- and gain-of-function pathomechanisms. The...
4.
Peverelli S, Brusati A, Casiraghi V, Sorce M, Invernizzi S, Santangelo S, et al.
Amyotroph Lateral Scler Frontotemporal Degener . 2023 Dec; 25(1-2):207-210. PMID: 38099605
The hexanucleotide repeat (HR) expansion is the main genetic cause of amyotrophic lateral sclerosis (ALS), with expansion size from 30 to >4000 units. Normal HR length is polymorphic (2-23 repeats)...
5.
Brusati A, Peverelli S, Calzari L, Tiloca C, Casiraghi V, Sorce M, et al.
Front Aging Neurosci . 2023 Dec; 15:1272135. PMID: 38090719
During the last decades, our knowledge about the genetic architecture of sporadic amyotrophic lateral sclerosis (sALS) has significantly increased. However, besides the recognized genetic risk factors, also the environment is...
6.
Manini A, Casiraghi V, Brusati A, Maranzano A, Gentile F, Colombo E, et al.
Front Aging Neurosci . 2023 Feb; 15:1067954. PMID: 36819716
Background: The gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life...