Literature DB >> 15592742

No association between FMR1 premutations and multiple system atrophy.

Ichiro Yabe, Hiroyuki Soma, Asako Takei, Naoto Fujik, Hidenao Sasaki.   

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Year:  2004        PMID： 15592742     DOI： 10.1007/s00415-004-0546-5

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


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  13 in total

Review 1.  Consensus statement on the diagnosis of multiple system atrophy.

Authors:  S Gilman; P A Low; N Quinn; A Albanese; Y Ben-Shlomo; C J Fowler; H Kaufmann; T Klockgether; A E Lang; P L Lantos; I Litvan; C J Mathias; E Oliver; D Robertson; I Schatz; G K Wenning
Journal:  J Neurol Sci       Date:  1999-02-01       Impact factor: 3.181

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.  Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

Authors:  E J Kremer; M Pritchard; M Lynch; S Yu; K Holman; E Baker; S T Warren; D Schlessinger; G R Sutherland; R I Richards
Journal:  Science       Date:  1991-06-21       Impact factor: 47.728

4.  Phenotypic involvement in females with the FMR1 gene mutation.

Authors:  J E Riddle; A Cheema; W E Sobesky; S C Gardner; A K Taylor; B F Pennington; R J Hagerman
Journal:  Am J Ment Retard       Date:  1998-05

5.  Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.

Authors:  T Arinami; M Asano; K Kobayashi; H Yanagi; H Hamaguchi
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

6.  Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome).

Authors:  M I Papp; J E Kahn; P L Lantos
Journal:  J Neurol Sci       Date:  1989-12       Impact factor: 3.181

7.  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

8.  Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein.

Authors:  P H Tu; J E Galvin; M Baba; B Giasson; T Tomita; S Leight; S Nakajo; T Iwatsubo; J Q Trojanowski; V M Lee
Journal:  Ann Neurol       Date:  1998-09       Impact factor: 10.422

9.  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

10.  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
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  8 in total

1.  Genetic players in multiple system atrophy: unfolding the nature of the beast.

Authors:  Sylvia Stemberger; Sonja W Scholz; Andrew B Singleton; Gregor K Wenning
Journal:  Neurobiol Aging       Date:  2011-05-24       Impact factor: 4.673

Review 2.  The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.

Authors:  Jeffrey J Moffat; Eui-Man Jung; Minhan Ka; Amanda L Smith; Byeong Tak Jeon; Gijs W E Santen; Woo-Yang Kim
Journal:  Prog Neuropsychopharmacol Biol Psychiatry       Date:  2018-08-24       Impact factor: 5.067

3.  Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Authors:  Deborah A Hall; Joan A O'keefe
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-05-11

4.  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

Review 5.  Multiple system atrophy: genetic or epigenetic?

Authors:  Edith Sturm; Nadia Stefanova
Journal:  Exp Neurobiol       Date:  2014-12-12       Impact factor: 3.261

Review 6.  Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.

Authors:  Ana Maria Cabal-Herrera; Nattaporn Tassanakijpanich; Maria Jimena Salcedo-Arellano; Randi J Hagerman
Journal:  Int J Mol Sci       Date:  2020-06-20       Impact factor: 5.923

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

Review 8.  Multiple system atrophy: the application of genetics in understanding etiology.

Authors:  Monica Federoff; Lucia V Schottlaender; Henry Houlden; Andrew Singleton
Journal:  Clin Auton Res       Date:  2015-02-17       Impact factor: 4.435
  8 in total

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