Sarah J Annesley
Biographic Data
| ID | 7416979 |
|---|---|
| NAME | Sarah J Annesley |
| GIVEN NAMES | Sarah J |
| FAMILY NAME | Annesley |
| SIGNATURE | ANNESLEY S J |
| AFFILIATIONS | La Trobe University |
| ORCID | 0000-0002-7604-3985 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2021 |
| LATEST PUBLICATION YEAR | 2021 |
| H-INDEX | 0 |
Cellular Bioenergetics and AMPK and Torc1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers
Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55-200 range in a non-coding region. This late-onset disorder is characterised by the presence of tremor/ataxia and cognitive decline, associated with the white matter lesions throughout the brain, especially involving the middle cerebellar peduncles. N…
No prominent works on this page.
Cellular Bioenergetics and AMPK and Torc1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers
Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55-200 range in a non-coding region. This late-onset disorder is characterised by the presence of tremor/ataxia and cognitive decline, associated with the white matter lesions throughout the brain, especially involving the middle cerebellar peduncles. N…
Allele (1 work) · Ataxia (1 work) · Autism Spectrum Disorder Research (1 work) · Biology (1 work) · Cognitive decline (1 work) · Dementia (1 work) · Endocrinology (1 work) · Epigenetics and DNA Methylation (1 work) · FMR1 (1 work) · Genetics (1 work)