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.

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 11, 2020

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

Molecular Human Reproduction
Roseanne Rosario, Richard Anderson
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 25, 2020

Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome

Advances in Neurobiology
Xinyu Zhao, Anita Bhattacharyya
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
August 10, 2020
Open Access

Forensic mental telehealth assessment (FMTA) in the context of COVID-19

International Journal of Law and Psychiatry
Eric Y Drogin
August 5, 2020
Open Access

Temporal-specific roles of Fragile X mental retardation protein in the development of hindbrain auditory circuit

Development
Xiaoyu WangYuan Wang
July 22, 2020

A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouse

Epilepsy & Behavior : E&B
Jessica L HuebschmanJoaquin N Lugo
June 5, 2020
Open Access

Role of acute hemodilution in blood transfusion rate in patients submmited to scoliosis surgery: observational retrospective study

Revista brasileira de anestesiologia
Layana Vieira Nobre, Luis Vicente Garcia
July 1, 2020
Open Access

Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells

Proceedings of the National Academy of Sciences of the United States of America
Lorenza GarribbaYing Liu
June 21, 2020
Open Access

Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns

Molecular Autism
Shreya Das SharmaDavid J A Wyllie
June 21, 2020

FMRP ribonucleoprotein complexes and RNA homeostasis

Advances in Genetics
Gabriela Aparecida Marcondes Suardi, Luciana Amaral Haddad
June 25, 2020
Open Access

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations

Translational Psychiatry
Andrea SchneiderRandi J Hagerman
July 28, 2020

Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family

Genetic Testing and Molecular Biomarkers
Hernán CortésJonathan J Magaña

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