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; Marie Josée Dicaire; Matt C. Danzi; Chrysoula Koniari; Konstantinos Athanassopoulos; Marios Panas; Leonidas Stefanis; Stephan Zuchner; Bernard Brais; Henry Houlden; Georgia Karadima; Georgios Koutsis

doi:10.1111/cge.14482

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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

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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, Marie Josée Dicaire, Matt C. Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Marios Panas, …

Clinical genetics, Vol.105(4), pp.446-452

2024-04-01

DOI: https://doi.org/10.1111/cge.14482

PMID: 38221848

Appears in Miller School of Medicine - Latest Publications

Abstract

ataxia

cerebellar ataxia

FGF14

Greek population

spinocerebellar ataxia 27B (SCA27B)

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Title: The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
Creators: Chrisoula Kartanou - Eginition Hospital
Alexandros Mitrousias - Eginition Hospital
David Pellerin - National Hospital for Neurology and Neurosurgery
Zoi Kontogeorgiou - Eginition Hospital
Pablo Iruzubieta - Biogipuzkoa Health Research Institute
Marie Josée Dicaire - McGill University
Matt C. Danzi - University of Miami
Chrysoula Koniari - Eginition Hospital
Konstantinos Athanassopoulos - Eginition Hospital
Marios Panas - National and Kapodistrian University of Athens
Leonidas Stefanis - Eginition Hospital
Stephan Zuchner - Dr. John T. Macdonald Foundation
Bernard Brais - McGill University
Henry Houlden - National Hospital for Neurology and Neurosurgery
Georgia Karadima - Eginition Hospital
Georgios Koutsis - Eginition Hospital
Publication Details: Clinical genetics, Vol.105(4), pp.446-452
Number of pages: 7
Academic Unit: Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics
Language: English
Resource Type: Journal article
PMID: 38221848
Record Identifier: 991032860904602976