Fragile X-associated Tremor/Ataxia Syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by the expansion of CGG triple repeat in the FMR1 gene and characterized by movement problems and cognitive impairment. Here is the latest research on FXTAS.

January 15, 2021

Brain 18F-FDG and 18F-Flumetamol PET Imaging of Fragile X-Associated Tremor Ataxia Syndrome

Clinical Nuclear Medicine
Ruggero BacchinStefano Tamburin
August 11, 2020
Review

Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation

Current Opinion in Genetics & Development
Hiroyuki Ishiura, Shoji Tsuji
August 18, 2020
Review

The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS

Biochimica Et Biophysica Acta. Molecular Basis of Disease
Dhruv GohelRajesh Singh
October 22, 2020
Preprint
Open Access

Fragile X Premutation rCGG Repeats Impairs Synaptic Growth and Synaptic Transmission at Drosophila larval Neuromuscular Junction

BioRxiv : the Preprint Server for Biology
S. A. BhatAbrar Qurashi
December 4, 2020
Open Access

Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease

Journal of Neuropathology and Experimental Neurology
Shugang ZhangWeiguo Liu
August 11, 2020
Open Access

The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?

Molecular Human Reproduction
Roseanne Rosario, Richard Anderson
November 10, 2020

Women with Fragile X-associated Tremor/Ataxia Syndrome

Movement Disorders Clinical Practice
Andrea SchneiderRandi J Hagerman
October 7, 2020
Review
Open Access

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Movement Disorders : Official Journal of the Movement Disorder Society
Santiago Perez-Lloretand members of the MDS Rating Scales Review Committee
October 19, 2020
Preprint
Open Access

Near-cognate initiation generates FMRpolyG from CGG repeats in Fragile X associated Tremor Ataxia Syndrome

BioRxiv : the Preprint Server for Biology
Y. ZhangP. K. Todd
July 8, 2020
Open Access

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)

Scientific Reports
Marwa ZafarullahFlora Tassone
June 27, 2020
Case Report
Open Access

A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset

Frontiers in Neurology
Pan LinZai-Qiang Zhang
June 25, 2020
Review
Open Access

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

International Journal of Molecular Sciences
Ana María Cabal-HerreraRandi J Hagerman
January 8, 2021
Preprint
Open Access

Enhanced detection of nucleotide repeat mRNA with hybridization chain reaction

BioRxiv : the Preprint Server for Biology
M. R. GlineburgPeter Todd
December 2, 2020

FXTAS patient presenting as Huntington-like generalized chorea

Revue neurologique
A LapostolleB Degos
December 31, 2020
Open Access

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.

Brain Sciences
Zheng WangMatthew W Mosconi
June 21, 2020

FMRP ribonucleoprotein complexes and RNA homeostasis

Advances in Genetics
Gabriela Aparecida Marcondes Suardi, Luciana Amaral Haddad
November 3, 2020
Open Access

Cardiovascular Problems in the Fragile X Premutation

Frontiers in Genetics
Nattaporn TassanakijpanichRandi J Hagerman
November 17, 2020
Review
Open Access

Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences
Yiqu CaoPeng Jin

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