Results 51 to 60 of about 206,873 (358)

Aging in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders, 2010
Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women ...
Maureen A. Leehey, Evan Adams, Antoniya Boyd, Nicole Tartaglia, Louise W. Gane, Lily Ngotran, Flora Tassone, Agustini Utari, Agustini Utari, Randi J Hagerman, Felicia A. Scaggs, Alyssa Chavez, Elizabeth Berry-Kravis, David R Hessl   +13 more
openaire   +5 more sources

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]

, 2016
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Arrieta Saez, María Isabel, Barasoain Hernandez, Maitane, Barrenetxea Ziarrusta, Gorka, Criado, Begoña, Huerta, Iratxe, Télez, Mercedes   +5 more
core   +7 more sources

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Nature Communications, 2022
Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.
Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil   +11 more
doaj   +1 more source

Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

Genetics and Molecular Biology, 2002
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego, Abdelkrim Hmadcha, Francisco Moron, Miguel Lucas, Mercedes Carrasco, Elizabeth Pintado   +5 more
doaj   +1 more source

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]

PLoS ONE, 2015
Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy   +11 more
doaj   +1 more source

Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome [PDF]

, 2008
Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation.
Bochorishvili, G., Hu, H. L., Qin, Y., Van Aelst, L., Zhu, J. J., Zhu, Y. H.   +5 more
core   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source

Genetics‐Based Targeting Strategies for Precise Neuromodulation

Advanced Science, EarlyView.
In this Review, the fundamental principles and implementation protocols of genetics‐based precision neuromodulation are first introduced. Then, wireless and low‐invasive strategies based on nano‐transducing materials are highlighted, along with a dissection and analysis of the strengths and weaknesses of representative studies.
Yuyuan He, Zhidong Wei, Jianda Xu, Fei Jin, Tong Li, Lili Qian, Juan Ma, Weiying Zheng, Negar Javanmardi, Ting Wang, Kangjian Sun, Zhang‐Qi Feng   +11 more
wiley   +1 more source

Auditory Processing in Fragile X Syndrome

Frontiers in Cellular Neuroscience, 2014
Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication.
Sarah E Rotschafer, Khaleel A Razak
doaj   +1 more source

Deteksi Sindrom Fragile X dengan Pemeriksaan Sitogenetik dan PCR Pada Siswa SLB Hj. Soemiyati Himawan Semarang [PDF]

, 2010
Background: Mental retardation is a condition in which the intellectual function is significantly below the average and accompanied by limitation in adaptive behavior.
Kartika, Nurdita
core