Literature DB >> 34307756

Dystonia in a Female Fragile X Premutation Carrier.

Victoria Ros-Castelló1, Anna Latorre2, Juan Álvarez-Linera3, Juan C Martinez-Castrillo1, Kailash P Bhatia2, Isabel Pareés1.   

Abstract

Entities:  

Keywords:  FMR1 premutation; FXTAS; dystonia; fragile X syndrome

Year:  2021        PMID： 34307756      PMCID： PMC8287185          DOI： 10.1002/mdc3.13234

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.

Authors:  Judit Horvath; Pierre R Burkhard; Michael Morris; Armand Bottani; Isabelle Moix; Jacqueline Delavelle
Journal:  Mov Disord       Date:  2007-08-15       Impact factor: 10.338

2.  Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.

Authors:  Vikram G Shakkottai; Amit Batla; Kailash Bhatia; William T Dauer; Christian Dresel; Martin Niethammer; David Eidelberg; Robert S Raike; Yoland Smith; H A Jinnah; Ellen J Hess; Sabine Meunier; Mark Hallett; Rachel Fremont; Kamran Khodakhah; Mark S LeDoux; Traian Popa; Cécile Gallea; Stéphane Lehericy; Andreea C Bostan; Peter L Strick
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

3.  Case report: Dystonia in a fragile X carrier.

Authors:  Lin Zhang; Dina Sukharev; Andrea Schneider; John M Olichney; Andreea Seritan; Randi J Hagerman
Journal:  Mov Disord       Date:  2011-04-05       Impact factor: 10.338

Review 4.  Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.

Authors:  Randi J Hagerman; Paul Hagerman
Journal:  Nat Rev Neurol       Date:  2016-06-24       Impact factor: 42.937

5.  Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

Authors:  J S Adams; P E Adams; D Nguyen; 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:  Neurology       Date:  2007-08-28       Impact factor: 9.910

6.  Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

Authors:  Jun Yi Wang; David Hessl; Andrea Schneider; Flora Tassone; Randi J Hagerman; Susan M Rivera
Journal:  JAMA Neurol       Date:  2013-08       Impact factor: 18.302

7.  A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers.

Authors:  Jun Yi Wang; Randi J Hagerman; Susan M Rivera
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

8.  Women with Fragile X-associated Tremor/Ataxia Syndrome.

Authors:  Andrea Schneider; Scott Summers; Flora Tassone; Andreea Seritan; David Hessl; Paul Hagerman; Randi Hagerman
Journal:  Mov Disord Clin Pract       Date:  2020-09-23

Review 9.  Fragile X syndrome and associated disorders: Clinical aspects and pathology.

Authors:  Maria Jimena Salcedo-Arellano; Brett Dufour; Yingratana McLennan; Veronica Martinez-Cerdeno; Randi Hagerman
Journal:  Neurobiol Dis       Date:  2020-01-10       Impact factor: 7.046
  9 in total
  1 in total

Review 1.  Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.

Authors:  Daniele Orsucci; Lucia Lorenzetti; Fulvia Baldinotti; Andrea Rossi; Edoardo Vitolo; Fabio Luigi Gheri; Alessandro Napolitano; Giancarlo Tintori; Marco Vista
Journal:  J Clin Med       Date:  2022-02-15       Impact factor: 4.241
  1 in total

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