Gabriele Lignani
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Explore the profile of Gabriele Lignani including associated specialties, affiliations and a list of published articles.
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46
Citations
952
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Recent Articles
1.
Bimbard C, Takacs F, Catarino J, Fabre J, Gupta S, Lenzi S, et al.
Elife
. 2025 Feb;
13.
PMID: 39964835
Electrophysiology has proven invaluable to record neural activity, and the development of Neuropixels probes dramatically increased the number of recorded neurons. These probes are often implanted acutely, but acute recordings...
2.
Kempthorne L, Vaizoglu D, Cammack A, Carcole M, Roberts M, Mikheenko A, et al.
Nat Commun
. 2025 Jan;
16(1):459.
PMID: 39779704
The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense...
3.
Padmasola G, Lignani G
Epilepsy Curr
. 2024 Nov;
24(5):364-366.
PMID: 39508009
No abstract available.
4.
Jones S, ONeill N, Carpenter J, Muggeo S, Colasante G, Kullmann D, et al.
Neurobiol Dis
. 2024 Oct;
201:106688.
PMID: 39368670
Dravet Syndrome (DS) is most often caused by heterozygous loss-of-function mutations in the voltage-gated sodium channel gene SCN1A (Na1.1), resulting in severe epilepsy and neurodevelopmental impairment thought to be cause...
5.
Deneubourg C, Dafsari H, Lowe S, Martinez-Cotrina A, Mazaud D, Park S, et al.
Autophagy
. 2024 Sep;
21(2):447-459.
PMID: 39342484
Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an essential neuronal housekeeping mechanism, which causes severe...
6.
Abela L, Gianfrancesco L, Tagliatti E, Rossignoli G, Barwick K, Zourray C, et al.
Brain
. 2024 Jan;
147(6):2023-2037.
PMID: 38242634
DNAJC6 encodes auxilin, a co-chaperone protein involved in clathrin-mediated endocytosis (CME) at the presynaptic terminal. Biallelic mutations in DNAJC6 cause a complex, early-onset neurodegenerative disorder characterized by rapidly progressive parkinsonism-dystonia...
7.
Almacellas Barbanoj A, Graham R, Maffei B, Carpenter J, Leite M, Hoke J, et al.
Brain
. 2023 Dec;
147(2):542-553.
PMID: 38100333
Focal cortical dysplasias are a common subtype of malformation of cortical development, which frequently presents with a spectrum of cognitive and behavioural abnormalities as well as pharmacoresistant epilepsy. Focal cortical...
8.
Sampedro-Castaneda M, Baltussen L, Lopes A, Qiu Y, Sirvio L, Mihaylov S, et al.
Nat Commun
. 2023 Dec;
14(1):7830.
PMID: 38081835
Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic...
9.
10.
Street J, Qiu Y, Lignani G
Epilepsy Curr
. 2023 Sep;
23(4):245-250.
PMID: 37662470
In recent years, there has been a significant increase in preclinical studies to test genetic therapies for epilepsy. Some of these therapies have advanced to clinical trials and are being...