Publications by authors named "Georgia Karadima"

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Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity.
Abdallah N Mansour, Georgia Karadima, Georgios Koutsis, Shadi Salloum

Ann Med Surg (Lond)· December 2025

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Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort.
Chrisoula Kartanou, Zoi Kontogeorgiou, Theodoros Loupis, Dimitrios M Vrachnos, Nikolaos Ragazos, Georgia Karadima

Amyotroph Lateral Scler Frontotemporal Degener· November 2025

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Huntington's Disease-like Syndrome as a Rare Presentation of CACNA1A-Related Disorder.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Georgia Karadima

Mov Disord Clin Pract· November 2025

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The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Georgia Karadima

Clin Genet· November 2025

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The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
Ioanna Alefanti, Christos Koros, Viktoria Tsami, Athina Maria Simitsi, Chrisoula Kartanou, Georgia Karadima

Eur J Neurol· February 2025

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Partial loss of function causes hereditary spastic paraplegia.
Ainara Salazar-Villacorta, Laura M Bond, Leehyeon Kim, Katherine Anagnostopoulou, Annarita Scardamaglia, Georgia Karadima

medRxiv· January 2025

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Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.
Georgios Koutsis, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Alexandros Mitrousias, Georgia Karadima

J Neurol Sci· December 2024

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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Georgia Karadima

Genet Med· June 2024

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The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Georgia Karadima

Clin Genet· April 2024

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Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Nikolaos Papagiannakis, Hui Liu, Christos Koros, Athina-Maria Simitsi, Maria Stamelou, Georgia Karadima

Mov Disord· April 2024

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Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.
Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Georgia Karadima

J Peripher Nerv Syst· December 2023

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Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
Ioannis Panagiotopoulos, Efstathios Papatheodorou, Aris Anastasakis, Eustathios Kastritis, Polyxeni Gourzi, Georgia Karadima

Hell J Nucl Med· November 2023

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Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy.
Efthalia Angelopoulou, Georgia Karadima, Efstratios-Stylianos Pyrgelis, Thomas Zambelis, Vasiliki Zouvelou

J Clin Neuromuscul Dis· March 2023

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Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.
Chrisoula Kartanou, Maria Seferiadi, Stella Pomoni, Constantin Potagas, Chrystalena Sofocleous, Georgia Karadima

Parkinsonism Relat Disord· February 2023

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A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Georgios K Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Georgia Karadima

Int J Mol Sci· December 2022

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Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
Chrisoula Kartanou, Zoi Kontogeorgiou, Michail Rentzos, Constantin Potagas, Stavroula Aristeidou, Georgia Karadima

J Neurol Sci· November 2022

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Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
Efstratios Karavasilis, Foteini Christidi, Eirini Pantou, Georgia Angelopoulou, Dimitrios Kasselimis, Georgia Karadima

Neuroradiology· March 2022

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HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Zoi Kontogeorgiou, Charalampos Voudommatis, Chrisoula Kartanou, Dionysis Pandis, Marianthi Breza, Georgia Karadima

J Peripher Nerv Syst· December 2021

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Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.
Georgios Koutsis, Efstathios Kastritis, Zoi Kontogeorgiou, Chrisoula Kartanou, Panagiotis Kokotis, Georgia Karadima

Neuromuscul Disord· December 2021

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Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.
Mara Bourbouli, George P Paraskevas, Mihail Rentzos, Lambros Mathioudakis, Vasiliki Zouvelou, Georgia Karadima

Brain Sci· September 2021

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Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.
Zoi Kontogeorgiou, Chrisoula Kartanou, Chrysanthi Tsirligkani, Evangelos Anagnostou, Michail Rentzos, Georgia Karadima

Clin Genet· July 2021

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Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.
Achilleas Laskaratos, Marianthi Breza, Georgia Karadima, Georgios Koutsis

J Med Genet· June 2021

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Spastic paraplegia preceding -related familial Alzheimer's disease.
Viorica Chelban, Marianthi Breza, Maria Szaruga, Jana Vandrovcova, David Murphy, Georgia Karadima

Alzheimers Dement (Amst)· May 2021

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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Georgia Karadima

Mov Disord· April 2021

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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Marianthi Breza, Thomas Bourinaris, Stephanie Efthymiou, Reza Maroofian, Alkyoni Athanasiou-Fragkouli, Georgia Karadima

Brain· June 2020

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