Literature DB >> 15592745

FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.

Ch Zühlke, A Budnik, U Gehlken, A Dalski, S Purmann, M Naumann, M Schmidt, K Bürk, E Schwinger.   

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Year:  2004        PMID： 15592745     DOI： 10.1007/s00415-004-0558-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia.

Authors:  James Macpherson; Andrew Waghorn; Simon Hammans; Patricia Jacobs
Journal:  Hum Genet       Date:  2003-02-27       Impact factor: 4.132

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

Authors:  R J Hagerman; M Leehey; W Heinrichs; F Tassone; R Wilson; J Hills; J Grigsby; B Gage; P J Hagerman
Journal:  Neurology       Date:  2001-07-10       Impact factor: 9.910

3.  Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

Authors:  James A Brunberg; Sebastien Jacquemont; Randi J Hagerman; Elizabeth M Berry-Kravis; Jim Grigsby; Maureen A Leehey; Flora Tassone; W Ted Brown; Claudia M Greco; Paul J Hagerman
Journal:  AJNR Am J Neuroradiol       Date:  2002 Nov-Dec       Impact factor: 3.825

4.  The fragile X premutation presenting as essential tremor.

Authors:  Maureen A Leehey; Renato P Munhoz; Anthony E Lang; James A Brunberg; Jim Grigsby; Claudia Greco; Sebastian Jacquemont; Flora Tassone; A M Lozano; Paul J Hagerman; Randi J Hagerman
Journal:  Arch Neurol       Date:  2003-01

5.  Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

Authors:  C M Greco; R J Hagerman; F Tassone; A E Chudley; M R Del Bigio; S Jacquemont; M Leehey; P J Hagerman
Journal:  Brain       Date:  2002-08       Impact factor: 13.501

Review 6.  The fragile X premutation: into the phenotypic fold.

Authors:  Randi J Hagerman; Paul J Hagerman
Journal:  Curr Opin Genet Dev       Date:  2002-06       Impact factor: 5.578

7.  Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

Authors:  R J Hagerman; B R Leavitt; F Farzin; S Jacquemont; C M Greco; J A Brunberg; F Tassone; D Hessl; S W Harris; L Zhang; T Jardini; L W Gane; J Ferranti; L Ruiz; M A Leehey; J Grigsby; P J Hagerman
Journal:  Am J Hum Genet       Date:  2004-04-02       Impact factor: 11.025

8.  Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen Leehey; Jim Grigsby; Lin Zhang; James A Brunberg; Claudia Greco; Vincent Des Portes; Tristan Jardini; Richard Levine; Elizabeth Berry-Kravis; W Ted Brown; Stephane Schaeffer; John Kissel; Flora Tassone; Paul J Hagerman
Journal:  Am J Hum Genet       Date:  2003-03-12       Impact factor: 11.025

9.  Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Authors:  F Rousseau; P Rouillard; M L Morel; E W Khandjian; K Morgan
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  9 in total
  28 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

2.  Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.

Authors:  Michael R Hunsaker; Naomi J Goodrich-Hunsaker; Rob Willemsen; Robert F Berman
Journal:  Behav Brain Res       Date:  2010-05-15       Impact factor: 3.332

Review 3.  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 4.  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

5.  Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Authors:  Atefeh Entezari; Mahmoud Shekari Khaniani; Tayyeb Bahrami; Sima Mansoori Derakhshan; Hossein Darvish
Journal:  Neurol Sci       Date:  2016-10-01       Impact factor: 3.307

6.  Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

Authors:  P E Adams; J S Adams; D V Nguyen; D Hessl; J A Brunberg; F Tassone; W Zhang; K Koldewyn; S M Rivera; J Grigsby; L Zhang; C Decarli; P J Hagerman; R J Hagerman
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-04-05       Impact factor: 3.568

7.  Expanded clinical phenotype of women with the FMR1 premutation.

Authors:  Sarah M Coffey; Kylee Cook; Nicole Tartaglia; Flora Tassone; Danh V Nguyen; Ruiqin Pan; Hannah E Bronsky; Jennifer Yuhas; Mariya Borodyanskaya; Jim Grigsby; Melanie Doerflinger; Paul J Hagerman; Randi J Hagerman
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

8.  Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.

Authors:  Allyn McConkie-Rosell; Liane Abrams; Brenda Finucane; Amy Cronister; Louise W Gane; Sarah M Coffey; Stephanie Sherman; Lawrence M Nelson; Elizabeth Berry-Kravis; David Hessl; Sufen Chiu; Natalie Street; Ajay Vatave; Randi J Hagerman
Journal:  J Genet Couns       Date:  2007-05-12       Impact factor: 2.537

Review 9.  Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.

Authors:  Maureen A Leehey
Journal:  J Investig Med       Date:  2009-12       Impact factor: 2.895

10.  Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome.

Authors:  James A Bourgeois; Jennifer B Cogswell; David Hessl; Lin Zhang; Michele Y Ono; Flora Tassone; Faraz Farzin; James A Brunberg; Jim Grigsby; Randi J Hagerman
Journal:  Gen Hosp Psychiatry       Date:  2007 Jul-Aug       Impact factor: 3.238
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