Cargando…

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

INTRODUCTION: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, diffe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J., Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G., Rodriguez-Revenga, Laia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853890/ https://www.ncbi.nlm.nih.gov/pubmed/36688175 http://dx.doi.org/10.3389/fnagi.2022.1073258

Ejemplares similares

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2023)

Dementia in Fragile X-associated Tremor/Ataxia Syndrome
por: Nitrini, Ricardo, et al.
Publicado: (2010)

A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor
por: Lee, Woong-Woo, et al.
Publicado: (2023)

Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case
por: Lee, Chaewon, et al.
Publicado: (2019)

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor
por: Robertson, Erin E., et al.
Publicado: (2020)

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
por: Berman, Robert F, et al.
Publicado: (2014)

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
por: Higuchi, Yujiro, et al.
Publicado: (2021)

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
por: Elias-Mas, Andrea, et al.
Publicado: (2021)

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome
por: Sellier, Chantal, et al.
Publicado: (2014)

Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome
por: Ma, Lisa, et al.
Publicado: (2019)

Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2023)

Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2020)

Identification of PSMB5 as a genetic modifier of fragile X–associated tremor/ataxia syndrome
por: Kong, Ha Eun, et al.
Publicado: (2022)

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype
por: Fraint, Avram, et al.
Publicado: (2014)

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications
por: Cabal-Herrera, Ana Maria, et al.
Publicado: (2020)

Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome
por: Krans, Amy, et al.
Publicado: (2019)

Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome
por: Holm, Katharine Nichole, et al.
Publicado: (2021)

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
por: Orsucci, Daniele, et al.
Publicado: (2022)

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
por: Dias, Caroline M., et al.
Publicado: (2023)

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
por: Hagerman, Randi J, et al.
Publicado: (2008)

Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future
por: Hall, Deborah A., et al.
Publicado: (2018)

Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics
por: Kong, Ha Eun, et al.
Publicado: (2017)

Corrigendum: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome
por: Holm, Katharine Nichole, et al.
Publicado: (2021)

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters
por: Puig-Butillé, Joan Anton, et al.
Publicado: (2013)

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2022)

Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome
por: Yousuf, Aadil, et al.
Publicado: (2022)

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS
por: Zhao, Cuiping, et al.
Publicado: (2020)

95355 Potential Drug Therapy for Fragile X Tremor/Ataxia Syndrome
por: Brown, Collis, et al.
Publicado: (2021)

400 Potential Drug Therapy for Fragile X Tremor/Ataxia Syndrome
por: Brown, Collis, et al.
Publicado: (2022)

Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs
por: Park, Ji‐Hyung, et al.
Publicado: (2019)

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome
por: Kiliszek, Agnieszka, et al.
Publicado: (2011)

ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
por: Vittal, Padmaja, et al.
Publicado: (2018)

FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome
por: Martínez‐Cerdeño, Verónica, et al.
Publicado: (2017)

Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome
por: Salcedo-Arellano, Maria Jimena, et al.
Publicado: (2021)

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
por: Álvarez-Mora, María Isabel, et al.
Publicado: (2022)

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome
por: Sumekar, Tanjung A., et al.
Publicado: (2011)

Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment
por: Hall, Deborah A., et al.
Publicado: (2012)

Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)
por: Hall, Deborah A., et al.
Publicado: (2020)

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology
por: Sacino, Amanda N., et al.
Publicado: (2019)

Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
por: Grigioni, Giulia, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_v41leoqosoe63o4599p4tbqlio