Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort

Our results reveal the distinct genetic profile of Greek ALS patients. These findings will have an impact on genetic counseling, the design of diagnostic gene panels for the Greek population and on genotype-specific therapeutic interventions. Understanding the genetic causes of ALS in different populations is becoming increasingly important, especially with the advent of personalized medicine.

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Publication Details

Journal
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Published
2025-11-06
DOI
https://doi.org/10.1080/21678421.2025.2582828
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort

Eleftheria Koropouli, Georgia Karadima, Ioanna Spyropoulou, Maria Petraki et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Amyotrophic Lateral Sclerosis Research
article

Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort

Eleftheria Koropouli, Georgia Karadima, Ioanna Spyropoulou, Maria Petraki, Zoi Kontogeorgiou, Chrysoula Koniari, Ariadne Daponte, Dimitrios Miltiadis Vrachnos, Μάριος Πάνας, E. Kapaki, Stavroula Aristeidou, Georgios Koutsis, Leonidas Stefanis, Periklis Makrythanasis, Chrisoula Kartanou, Theodoros Loupis, Michail Rentzos, Nikolaos Ragazos
article en

Abstract

Our results reveal the distinct genetic profile of Greek ALS patients. These findings will have an impact on genetic counseling, the design of diagnostic gene panels for the Greek population and on genotype-specific therapeutic interventions. Understanding the genetic causes of ALS in different populations is becoming increasingly important, especially with the advent of personalized medicine.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
University of Geneva (CH), National and Kapodistrian University of Athens (GR), Academy of Athens (GR), Biomedical Research Foundation of the Academy of Athens (GR), Eginition Hospital (GR)
Openalex Percentile: Top 54%
Amyotrophic Lateral Sclerosis Research
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Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort — Eleftheria Koropouli, Georgia Karadima, et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2025) | TGRS Research Map | TGRS