Georgia Karadima
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Explore the profile of Georgia Karadima including associated specialties, affiliations and a list of published articles.
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56
Citations
348
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Recent Articles
1.
Salazar-Villacorta A, Bond L, Kim L, Anagnostopoulou K, Scardamaglia A, Filippakopoulou E, et al.
medRxiv
. 2025 Feb;
PMID: 39974099
encodes fat-storage inducing transmembrane protein 2 (FIT2), a lipid diphosphatase in the ER that cleaves acyl-CoAs and is crucial for ER homeostasis. In humans, homozygous null mutations in are associated...
2.
Alefanti I, Koros C, Tsami V, Simitsi A, Kartanou C, Papagiannakis N, et al.
Eur J Neurol
. 2025 Jan;
32(2):e16562.
PMID: 39878395
Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a...
3.
Koutsis G, Kartanou C, Kontogeorgiou Z, Koniari C, Mitrousias A, Pellerin D, et al.
J Neurol Sci
. 2024 Nov;
467:123309.
PMID: 39571249
Objective: Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in RFC1 and FGF14 have recently emerged as...
4.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro A, Atkinson D, et al.
Genet Med
. 2024 Mar;
26(6):101117.
PMID: 38459834
Purpose: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly...
5.
Papagiannakis N, Liu H, Koros C, Simitsi A, Stamelou M, Maniati M, et al.
Mov Disord
. 2024 Feb;
39(4):715-722.
PMID: 38357851
Introduction: Pathogenic variants in parkin (PRKN gene) are the second most prevalent known monogenic cause of Parkinson's disease (PD). How monoallelic or biallelic pathogenic variants in the PRKN gene may...
6.
Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire M, et al.
Clin Genet
. 2024 Jan;
105(4):446-452.
PMID: 38221848
A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B). We...
7.
Kontogeorgiou Z, Kartanou C, Rentzos M, Kokotis P, Anagnostou E, Zambelis T, et al.
J Peripher Nerv Syst
. 2023 Sep;
28(4):642-650.
PMID: 37747677
Background And Aims: Axonal forms of Charcot-Marie-Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory neuropathy (HSN) and can be caused by mutations in...
8.
Panagiotopoulos I, Papatheodorou E, Anastasakis A, Kastritis E, Gourzi P, Kontogeorgiou Z, et al.
Hell J Nucl Med
. 2023 Aug;
26(2):145-149.
PMID: 37610765
Objective: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and potentially fatal disease caused by the accumulation of insoluble transthyretin (TTR) amyloid fibrils in the heart. The symptoms of ATTR-CA are...
9.
Angelopoulou E, Karadima G, Pyrgelis E, Zambelis T, Zouvelou V
J Clin Neuromuscul Dis
. 2023 Feb;
24(3):165-166.
PMID: 36809207
No abstract available.
10.
Papadimas G, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, et al.
Int J Mol Sci
. 2022 Dec;
23(24).
PMID: 36555146
Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and...