Anna Atkinson
Dados Biográficos
| ID | 7969426 |
|---|---|
| NOME | Anna Atkinson |
| PRENOMES | Anna |
| SOBRENOME | Atkinson |
| ASSINATURA | ATKINSON A |
| AFILIAÇÕES | La Trobe University |
| VERIFICADO | Não |
| TOTAL DE OBRAS | 2 |
| TOTAL DE CITAÇÕES | 0 |
| TOTAL COMO AUTOR | 2 |
| TOTAL COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2021 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2021 |
| ÍNDICE H | 0 |
Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
Introduction: Premutation expansions (55-200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes…
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…
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Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
Introduction: Premutation expansions (55-200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes…
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…
Autism Spectrum Disorder Research (2 obras) · FMR1 (2 obras) · Genetics (2 obras) · Genetics and Neurodevelopmental Disorders (2 obras) · Medicine (2 obras) · Psychiatry (2 obras) · Allele (1 obras) · Ataxia (1 obras) · Biology (1 obras) · Child Nutrition and Feeding Issues (1 obras)