Zobrazeno 1 - 10
of 36
pro vyhledávání: '"R J, Hagerman"'
Publikováno v:
Revista de neurologia. 68(5)
The fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease associated with the repetition of CGG triplets (55-200 CGG repetitions) in the FMR1 gene. The premutation of the FMR1 gene, contrasting with the full mutation (mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::11860595ce2029bce650bbdf5cbb27c1
https://pubmed.ncbi.nlm.nih.gov/30805918
https://pubmed.ncbi.nlm.nih.gov/30805918
Autor:
J-C, Yang, C, Simon, A, Schneider, A L, Seritan, L, Hamilton, P J, Hagerman, R J, Hagerman, J M, Olichney
Publikováno v:
Genes, brain, and behavior. 13(2)
Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, affects fragile X (FMR1) gene premutation carriers in late life. Studies have shown cognitive impairments in FXTAS including executive dysfunction, working memory and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e28740295680d00bb3678c79cf18c4f
https://pubmed.ncbi.nlm.nih.gov/24299169
https://pubmed.ncbi.nlm.nih.gov/24299169
Publikováno v:
Clinical genetics. 85(5)
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::78991174765c5e58423c7860700b2b40
https://pubmed.ncbi.nlm.nih.gov/23786467
https://pubmed.ncbi.nlm.nih.gov/23786467
Publikováno v:
Clinical genetics. 84(6)
Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d8c652cf0dd6b09f085011e048db1f8
https://pubmed.ncbi.nlm.nih.gov/23320543
https://pubmed.ncbi.nlm.nih.gov/23320543
Autor:
T I, Winarni, F E P, Mundhofir, A, Ediati, M, Belladona, W M, Nillesen, H G, Yntema, B C J, Hamel, S M H, Faradz, R J, Hagerman
Publikováno v:
Clinical genetics. 83(3)
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33d9d1aa7be72b5e0e03648510047d99
https://pubmed.ncbi.nlm.nih.gov/22568721
https://pubmed.ncbi.nlm.nih.gov/22568721
Publikováno v:
Neuroepidemiology. 26(3)
We reviewed prevalence rates of fragile X mental retardation gene (FMR1) repeat expansions in movement disorder populations. Inclusion criteria included published epidemiological studies from systematic searches of Medline, Pubmed, Cochrane Databases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99c0d44a9c08c69b0554ea94a79476e2
https://pubmed.ncbi.nlm.nih.gov/16493202
https://pubmed.ncbi.nlm.nih.gov/16493202
Autor:
R J, Hagerman, P J, Hagerman
Publikováno v:
Revista de neurologia. 33
Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations.This paper will review our knowledge of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ac0ccabedcc88893d04c5c83265604c
https://pubmed.ncbi.nlm.nih.gov/12447820
https://pubmed.ncbi.nlm.nih.gov/12447820
Publikováno v:
American journal of medical genetics. 97(3)
Fragile X syndrome generally arises as a consequence of a large expansion of a CGG trinucleotide repeat element that is located in the GC-rich promoter region of the fragile X mental retardation gene (FMR1). In the conventional model for fragile X, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12aee747cb6c80c80e967d6c7464b85c
https://pubmed.ncbi.nlm.nih.gov/11449488
https://pubmed.ncbi.nlm.nih.gov/11449488
Publikováno v:
Neuropsychology. 15(2)
Two studies tested the specificity of the neurocognitive profile of women with fragile X syndrome (FXS). First, women with an FXS full mutation were compared with women with a premutation and women without FXS who grew up in FXS families. Women with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::abd156402fa98310ae68e422c3236345
https://pubmed.ncbi.nlm.nih.gov/11324870
https://pubmed.ncbi.nlm.nih.gov/11324870
Publikováno v:
American journal of medical genetics. 95(4)
Sleep patterns and endogenous melatonin profiles in 13 fragile X boys between the age of 4.7 and 11.0 years were compared to those of 8 age-matched, normal control boys. Parents recorded sleep patterns on a Sleep Diary Chart for 14 consecutive days.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c194c3a1ceb5d8e89cc18278f4f54d2
https://pubmed.ncbi.nlm.nih.gov/11186882
https://pubmed.ncbi.nlm.nih.gov/11186882