Sorana Ciura
Overview
Explore the profile of Sorana Ciura including associated specialties, affiliations and a list of published articles.
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Articles
34
Citations
1471
Followers
0
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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.
Salman B, Bon E, Delers P, Cottin S, Pasho E, Ciura S, et al.
Int J Mol Sci
. 2024 Sep;
25(18).
PMID: 39337533
Dysregulated RNA metabolism caused by SMN deficiency leads to motor neuron disease spinal muscular atrophy (SMA). Current therapies improve patient outcomes but achieve no definite cure, prompting renewed efforts to...
4.
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...
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.
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...
7.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitao E, Nava C, et al.
Tremor Other Hyperkinet Mov (N Y)
. 2023 Jul;
13:22.
PMID: 37457636
[This corrects the article DOI: 10.5334/tohm.464.].
8.
de Calbiac H, Dabacan A, Muresan R, Kabashi E, Ciura S
J Vis Exp
. 2021 Nov;
(176).
PMID: 34747399
Epilepsy represents one of the most common neurological disorders, affecting an estimated 50 million people worldwide. Recent advances in genetic research have uncovered a large spectrum of genes implicated in...
9.
Miccio A, Antoniou P, Ciura S, Kabashi E
Mol Ther
. 2021 Apr;
30(1):47-53.
PMID: 33823304
Motor neuron diseases are untreatable with common pharmacological approaches. Spinal muscular atrophy (SMA) is caused by SMN1 gene mutations leading to lowered SMN expression. Symptoms are alleviated in infants with...
10.
Campanari M, Marian A, Ciura S, Kabashi E
Cells
. 2021 Jan;
10(2).
PMID: 33499374
The "distal axonopathy" hypothesis in amyotrophic lateral sclerosis (ALS) proposes that pathological changes occur at the neuromuscular junction (NMJ) early in the disease. While acetylcholinesterase (AChE) plays an important role...