Zoi Kontogeorgiou

Athens, ESYE31, Greece

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

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

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

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: November 06, 2025

Niemann Pick Type C Presenting as Familial Late-Onset Richardson Syndrome. A Case Series of Four Siblings.

Niemann Pick Type C Presenting as Familial Late-Onset Richardson Syndrome. A Case Series of Four Siblings.

Journal: Movement disorders clinical practice

Published: October 17, 2025

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

Journal: Journal of the peripheral nervous system : JPNS

Published: September 30, 2025

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

Journal: Clinical genetics

Published: September 11, 2025

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.

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.

Journal: Journal of the neurological sciences

Published: August 27, 2024

The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

Journal: Clinical genetics

Published: November 06, 2023

Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.

Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 02, 2023

Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.

Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.

Journal: Hellenic journal of nuclear medicine

Published: June 07, 2023

Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.

Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.

Journal: Journal of the neurological sciences

Published: July 15, 2022

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Journal: Neuromuscular disorders : NMD

Published: August 30, 2021

HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.

HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 11, 2021

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.

Journal: Clinical genetics

Published: February 18, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026