Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. (Q34327177)

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26 January 2020

title

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families (English)

1 reference

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26 January 2020

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2

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26 January 2020

Celia Badenas

5

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26 January 2020

Montserrat Milà

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author name string

Laia Rodriguez-Revenga

1

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26 January 2020

Mar Xunclà

4

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26 January 2020

Beatriz Gomez

7

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26 January 2020

Javier Pagonabarraga

3

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Jaime Kulisevsky

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26 January 2020

publication date

15 April 2009

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European Journal of Human Genetics

26 January 2020

published in

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volume

17

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issue

10

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26 January 2020

page(s)

1359-1362

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.51

26 January 2020

exact match

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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

6 July 2018

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The fragile-X premutation: a maturing perspective

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Aging in individuals with the FMR1 mutation

6 July 2018

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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

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Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

6 July 2018

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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

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6 July 2018

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Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

21 January 2018

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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

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Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

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Expanded clinical phenotype of women with the FMR1 premutation.

21 January 2018

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Implications of the FMR1 gene in menopause: study of 147 Spanish women.

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Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.

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Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

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27 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/19367323

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12 December 2020

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Treating movement disorders and akathisia as side effects of antipsychotic pharmacotherapy

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7 January 2021

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Managing weight gain and metabolic issues in patients treated with atypical antipsychotics.

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Identifiers

DOI

10.1038/EJHG.2009.51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

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