Edor Kabashi
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Explore the profile of Edor Kabashi including associated specialties, affiliations and a list of published articles.
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71
Citations
3464
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Recent Articles
1.
Raas Q, Haouy G, de Calbiac H, Pasho E, Marian A, Guerrera I, et al.
Cell Death Discov
. 2025 Mar;
11(1):98.
PMID: 40075110
Pathogenic mutations within the TBK1 gene leading to haploinsufficiency are causative of amyotrophic lateral sclerosis (ALS). This gene is linked to autophagy and inflammation, two cellular mechanisms reported to be...
2.
de Calbiac H, Montealegre S, Straube M, Renault S, Debruge H, Chentout L, et al.
Autophagy Rep
. 2024 Dec;
3(1).
PMID: 39722856
Patients with pathogenic variants in the gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed , in primary skeletal myoblasts from TANGO2 patients, in...
3.
de Calbiac H, Renault S, Haouy G, Jung V, Roger K, Zhou Q, et al.
Autophagy
. 2024 Sep;
20(10):2164-2185.
PMID: 39316747
The GGGGCC hexanucleotide repeat expansion (HRE) of the gene is the most frequent cause of amyotrophic lateral sclerosis (ALS), a devastative neurodegenerative disease characterized by motor neuron degeneration. HRE is...
4.
Steffke C, Agarwal S, Kabashi E, Catanese A
Cells
. 2024 Aug;
13(15.
PMID: 39120329
The pathogenic expansion of the intronic GGGGCC hexanucleotide located in the non-coding region of the gene represents the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia...
5.
Bakouh N, Castano-Martin R, Metais A, Dan E, Balducci E, Chhuon C, et al.
Brain
. 2024 Aug;
148(2):549-563.
PMID: 39106285
Focal cortical dysplasia, hemimegalencephaly and cortical tubers are paediatric epileptogenic malformations of cortical development (MCDs) frequently pharmacoresistant and mostly treated surgically by the resection of epileptic cortex. Availability of cortical...
6.
Lehmann J, Aly A, Steffke C, Fabbio L, Mayer V, Dikwella N, et al.
Cell Death Dis
. 2024 Aug;
15(8):560.
PMID: 39097602
Spinal motor neurons (MNs) represent a highly vulnerable cellular population, which is affected in fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this...
7.
Brenet A, Somkhit J, Csaba Z, Ciura S, Kabashi E, Yanicostas C, et al.
Cells
. 2024 Apr;
13(8.
PMID: 38667299
It has been known for a long time that epileptic seizures provoke brain neuroinflammation involving the activation of microglial cells. However, the role of these cells in this disease context...
8.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami N, et al.
Nat Commun
. 2023 Dec;
14(1):8026.
PMID: 38049418
No abstract available.
9.
Aly A, Laszlo Z, Rajkumar S, Demir T, Hindley N, Lamont D, et al.
Acta Neuropathol
. 2023 Sep;
146(5):783.
PMID: 37698628
No abstract available.
10.
Aly A, Laszlo Z, Rajkumar S, Demir T, Hindley N, Lamont D, et al.
Acta Neuropathol
. 2023 Jul;
146(3):451-475.
PMID: 37488208
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease mainly affecting upper and lower motoneurons. Several functionally heterogeneous genes have been associated with the familial form of this disorder (fALS),...