Emerging Topics in FXTAS

Overview

Journal J Neurodev Disord

Publisher Biomed Central

Specialties Neurology
Psychiatry

Date 2015 Feb 3

PMID 25642984

Citations 50

Authors

Deborah A Hall

Rachael C Birch

Mathieu Anheim

Aia E Jonch

Elizabeth Pintado

Joanne OKeefe

Julian N Trollor

Glenn T Stebbins

Randi J Hagerman

Stanley Fahn

Elizabeth Berry-Kravis

Maureen A Leehey

Affiliations

Soon will be listed here.

Abstract

This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

Citing Articles

Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

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Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

Loesch D, Chafota F, Bui M, Storey E, Atkinson A, Martin N Mol Genet Genomic Med. 2024; 12(11):e70043.

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Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.

Montanaro F, Alfieri P, Caciolo C, Brunetti A, Airoldi A, de Florio A Orphanet J Rare Dis. 2024; 19(1):264.

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A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.

Mbachu C, Mbachu I, Hagerman R Genes (Basel). 2024; 15(6).

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Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome.

Yao P, Manolopoulos A, Eren E, Rivera S, Hessl D, Hagerman R Ann Clin Transl Neurol. 2024; 11(6):1420-1429.

PMID: 38717724 PMC: 11187838. DOI: 10.1002/acn3.52040.

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