Zobrazeno 1 - 10
of 554
pro vyhledávání: '"fragile X premutation"'
Autor:
Danuta Z. Loesch, Freddy Chafota, Minh Q. Bui, Elsdon Storey, Anna Atkinson, Nicholas G. Martin, Scott D. Gordon, Miguel E. Rentería, Randi J. Hagerman, Flora Tassone
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Premutation alleles of the FMR1 X‐linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late‐onset neurological involvements, including most severe disorder termed Fragile X‐associat
Externí odkaz:
https://doaj.org/article/de57b6e3ca4d47b9b3ab494f8af25f04
Autor:
Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandich
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved i
Externí odkaz:
https://doaj.org/article/c2fed8fc37084d1e90c4a1d7c8c7c8fe
Akademický článek
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Autor:
Danuta Z. Loesch, Anna Atkinson, Deborah A. Hall, Flora Tassone, Paige Stimpson, Elsdon Storey
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundThere is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The present study explores the possibility that this tremor is associated with various other features reminiscent of thos
Externí odkaz:
https://doaj.org/article/b7de074e7e544edba62deb799417e776
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera, David Hessl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Carriers of the FMR1 premutation are at increased risk of developing a late-onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by intention tremor, gait ataxia, and cogn
Externí odkaz:
https://doaj.org/article/5468b4155c244ec69f79ce5c63376024
Autor:
Jessica Klusek, Amanda Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman, Leonard Abbeduto
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-re
Externí odkaz:
https://doaj.org/article/2e3dde62e87046c0a7b9bd622a2c3314
Autor:
Sodhi DK, Hagerman R
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 1689-1699 (2021)
Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND I
Externí odkaz:
https://doaj.org/article/bc534780109143ca86fc1076d6451556
Autor:
Lauren M. Schmitt, Kelli C. Dominick, Rui Liu, Ernest V. Pedapati, Lauren E. Ethridge, Elizabeth Smith, John A. Sweeney, Craig A. Erickson
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 15 (2022)
Over 200 Cytosine-guanine-guanine (CGG) trinucleotide repeats in the 5′ untranslated region of the Fragile X mental retardation 1 (FMR1) gene results in a “full mutation,” clinically Fragile X Syndrome (FXS), whereas 55 – 200 repeats result i
Externí odkaz:
https://doaj.org/article/3a6088b6f01a4ddd960ba78369ac7154
Autor:
Jun Yi Wang, Gerard J. Sonico, Maria Jimena Salcedo-Arellano, Randi J. Hagerman, Veronica Martinez-Cerdeno
Publikováno v:
Cells, Vol 12, Iss 14, p 1898 (2023)
Brain changes at the end-stage of fragile X-associated tremor/ataxia syndrome (FXTAS) are largely unknown due to mobility impairment. We conducted a postmortem MRI study of FXTAS to quantify cerebrovascular disease, brain atrophy and iron content, an
Externí odkaz:
https://doaj.org/article/e08e59afce094c16874f9ab6c28665bf