Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Anna Atkinson"'
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
Autor:
Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
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 Syndro
Externí odkaz:
https://doaj.org/article/056f60fbda4f46bcac9b85ec8e2c3c73
Autor:
Danuta Z. Loesch, Bruce E. Kemp, Minh Q. Bui, Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Kevin R. W. Ngoei, Anna Atkinson, Flora Tassone, Sarah J. Annesley, Elsdon Storey
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
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-onse
Externí odkaz:
https://doaj.org/article/ae4074102c024825816d2c1abaa6b6b0
Autor:
Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey
Publikováno v:
Brain Sciences, Vol 12, Iss 11, p 1549 (2022)
The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features. Nearly half of men with FMR1 premutation develop a neurodegenerative disorder; F
Externí odkaz:
https://doaj.org/article/3ad1e65e0882417dae4c7a8552cb61c8
Autor:
Danuta Z. Loesch, Flora Tassone, Anna Atkinson, Paige Stimpson, Nicholas Trost, Dean L. Pountney, Elsdon Storey
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2021)
Expansions of the CGG repeat in the non-coding segment of the FMR1 X-linked gene are associated with a variety of phenotypic changes. Large expansions (>200 repeats), which cause a severe neurodevelopmental disorder, the fragile x syndrome (FXS), are
Externí odkaz:
https://doaj.org/article/4431b2654c574dbeb0e433fd4765a036
Autor:
Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Anna Atkinson, Kevin R. W. Ngoei, Bruce E. Kemp, Elsdon Storey, Danuta Z. Loesch, Sarah J. Annesley
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 19, p 10393 (2021)
The X-linked FMR1 gene contains a non-coding trinucleotide repeat in its 5’ region that, in normal, healthy individuals contains 20–44 copies. Large expansions of this region (>200 copies) cause fragile X syndrome (FXS), but expansions of 55–19
Externí odkaz:
https://doaj.org/article/8a8f39fe11f04a3eb1e6e7bebc8b7df2
Autor:
Anna Atkinson, Darren R. Hocking, Elsdon Storey, Paige Stimpson, Flora Tassone, Danuta Z. Loesch
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
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 Syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84c08258dc1d92581c87668f9fe0085
https://www.frontiersin.org/articles/10.3389/fpsyt.2021.742929/full
https://www.frontiersin.org/articles/10.3389/fpsyt.2021.742929/full
Autor:
Claire Y. Allan, Danuta Z. Loesch, Oana Sanislav, Sarah J. Annesley, Bruce E. Kemp, Minh Bui, Paul R. Fisher, Kevin R.W. Ngoei, Elsdon Storey, Flora Tassone, Anna Atkinson
Publikováno v:
Frontiers in Psychiatry, Vol 12 (2021)
Frontiers in Psychiatry
Frontiers in Psychiatry
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-onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83771d0a85e07ca19fe216873a06d7ff
https://www.frontiersin.org/articles/10.3389/fpsyt.2021.747268/full
https://www.frontiersin.org/articles/10.3389/fpsyt.2021.747268/full
Publikováno v:
Cerebellum & ataxias, vol 8, iss 1
Cerebellum & Ataxias
Cerebellum & Ataxias, Vol 8, Iss 1, Pp 1-8 (2021)
Cerebellum & Ataxias
Cerebellum & Ataxias, Vol 8, Iss 1, Pp 1-8 (2021)
Background Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed ‘premutation’ lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged carrier males, and 8–16%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa774f3de2abe39b3d6394f85caaaac
https://escholarship.org/uc/item/10x3161t
https://escholarship.org/uc/item/10x3161t
Autor:
Danuta Z. Loesch, Nicholas G. Martin, Elsdon Storey, Anna Atkinson, Flora Tassone, David L. Duffy
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies. 24(2)
Fragile X-associated tremor/ataxia syndrome (FXTAS) occurs in carriers of fragile X mental retardation 1 (FMR1) X-linked small CGG expansion (gray zone [GZ] and premutation [PM]) alleles, containing 41–200 repeats. Major features comprise kinetic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7136f1df03790d92c2a6ff3e4447de35
https://pubmed.ncbi.nlm.nih.gov/33757613
https://pubmed.ncbi.nlm.nih.gov/33757613