Results 21 to 30 of about 185 (76)

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance. [PDF]

Int J Mol Sci
Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5′ UTR of the fragile X messenger ribonucleoprotein 1 (FMR1) gene.
Protic D, Polli R, Bettella E, Usdin K, Murgia A, Tassone F.   +5 more
europepmc   +2 more sources

Analyzing the Influencing Factors of Economic Fluctuations in the Era of Big Data

Scientific Programming, Volume 2022, Issue 1, 2022., 2022
In view of the problems of poor correlation and poor calculation accuracy of the existing factors affecting economic fluctuations, this paper designs a new method for analyzing the factors affecting economic fluctuations based on the characteristics of the era of big data.
Xiaoliang Xiong, Tongguang Ni
wiley   +1 more source

X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity

Movement Disorders, Volume 36, Issue 7, Page 1511-1525, July 2021., 2021
Abstract X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non‐neurological signs ...
Giulia Di Lazzaro, Francesca Magrinelli, Carlos Estevez‐Fraga, Enza M. Valente, Antonio Pisani, Kailash P. Bhatia   +5 more
wiley   +1 more source

Reversibility of the pathology in a mouse model of fragile X-associated tremor/ataxia syndrome : exploring time-dependence and intervention strategies [PDF]

, 2020
Trinucleotide repeat expansion mutations in the 5’ untranslated region of the fragile X mental retardation-1 gene (fmr1) are the underlying genetic cause of four distinct disorders.
Kul, Ufuk Emre
core   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

High‐Accuracy Frequency Detection and Analysis via Adaptive Frequency Standard Tracking

IET Signal Processing, Volume 2025, Issue 1, 2025.
Precise frequency detection is one of the key problems to be solved in a high‐accuracy transfer of time and frequency. The solution to this problem is helpful in improving the precision of the phase noise measurement, atomic frequency standard, and time synchronization, which plays a strong role in the whole precision measurement physics fields. A high‐
Baoqiang Du, Zhengze Xiao, Lanqin Tan, Yongcheng Jing   +3 more
wiley   +1 more source

Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X‐Associated Disorders

WIREs RNA, Volume 15, Issue 6, November/December 2024.
CGG repeat expansion may occur in the 5′ untranslated region of the FMR1 gene. The resulting mutant DNA and RNA with expanded CGG repeats form stable secondary structures that can interfere with numerous cellular processes. Depending on the length of the CGG repeats, different molecular phenotypes may occur, which in turn determine different clinical ...
Izabela Broniarek, Daria Niewiadomska, Krzysztof Sobczak   +2 more
wiley   +1 more source

A holistic approach to fragile X syndrome integrated guidance for person‐centred care

Journal of Applied Research in Intellectual Disabilities, Volume 37, Issue 3, May 2024.
Abstract Background The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first‐hand experience of clinicians ...
Kirsten Johnson, Andrew C. Stanfield, Gaia Scerif, Andrew McKechanie, Angus Clarke, Jonathan Herring, Kayla Smith, Hayley Crawford   +7 more
wiley   +1 more source

Force treadmill for measuring vertical and horizontal ground reaction forces

, 1998
We constructed a force treadmill to measure the vertical, horizontal and lateral components of the ground-reaction forces (Fz, Fy, Fx, respectively) and the ground-reaction force moments (Mz, My, Mx), respectively exerted by walking and running humans ...
J. Maxwell Donelan, Rodger Kram, Timothy M. Griffin, Young Hui Chang   +3 more
core   +1 more source

Design and characterisation of an active mirror for EUV-lithography

, 2015
Due to the absorption of extreme ultraviolet (EUV) light in the projection optical system of an EUV lithog-raphy machine, its mirrors thermally deform resulting in wavefront errors (WFEs) that deteriorate theimaging process.
Saathof, Rudolf, Spronck, Jo W., Schutten, Gerrit Jan M., Munnig Schmidt, Robert H.   +3 more
core   +1 more source