Literature DB >> 14994246

Fragile X carrier screening and spinocerebellar ataxia in older males.

Jeff M Milunsky, Thomas A Maher.   

Abstract

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Year:  2004        PMID： 14994246     DOI： 10.1002/ajmg.a.20465

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Size bias of fragile X premutation alleles in late-onset movement disorders.

Authors:  Sebastien Jacquemont; Maureen A Leehey; Randi J Hagerman; Laurel A Beckett; Paul J Hagerman
Journal:  J Med Genet       Date:  2006-05-24       Impact factor: 6.318

Review 2.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

Review 3.  FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.

Authors:  Rob Willemsen; Edwin Mientjes; Ben A Oostra
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

Review 4.  Unstable mutations in the FMR1 gene and the phenotypes.

Authors:  Danuta Loesch; Randi Hagerman
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

5.  FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Authors:  Ana I Seixas; José Vale; Paula Jorge; Isabel Marques; Rosário Santos; Isabel Alonso; Ana M Fortuna; Jorge Pinto-Basto; Paula Coutinho; Russell L Margolis; Jorge Sequeiros; Isabel Silveira
Journal:  Behav Brain Funct       Date:  2011-06-03       Impact factor: 3.759

6.  Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

Authors:  Gülsah Aydin; Gabriele Dekomien; Sabine Hoffjan; Wanda Maria Gerding; Jörg T Epplen; Larissa Arning
Journal:  BMC Neurol       Date:  2018-01-09       Impact factor: 2.474

7.  Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Authors:  Yujiro Higuchi; Masahiro Ando; Akiko Yoshimura; Satoshi Hakotani; Yuki Koba; Yusuke Sakiyama; Yu Hiramatsu; Yuichi Tashiro; Yoshimitsu Maki; Akihiro Hashiguchi; Junhui Yuan; Yuji Okamoto; Eiji Matsuura; Hiroshi Takashima
Journal:  Cerebellum       Date:  2021-09-09       Impact factor: 3.648
  7 in total

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