Literature DB >> 30838288

Fragile X-associated Tremor/Ataxia Syndrome in an Adolescent Female.

Shivam Om Mittal1, Kenneth Mack2, James H Bower1.   

Abstract

Entities:  

Keywords:  Ataxia; Tremor; Young onset; genetic

Year:  2017        PMID： 30838288      PMCID： PMC6353322          DOI： 10.1002/mdc3.12513

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


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  12 in total

1.  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

2.  Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Authors:  Weerasak Chonchaiya; Jacky Au; Andrea Schneider; David Hessl; Susan W Harris; Meredith Laird; Yi Mu; Flora Tassone; Danh V Nguyen; Randi J Hagerman
Journal:  Hum Genet       Date:  2011-10-15       Impact factor: 4.132

3.  Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.

Authors:  Faraz Farzin; Hazel Perry; David Hessl; Danuta Loesch; Jonathan Cohen; Susan Bacalman; Louise Gane; Flora Tassone; Paul Hagerman; Randi Hagerman
Journal:  J Dev Behav Pediatr       Date:  2006-04       Impact factor: 2.225

4.  Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.

Authors:  Helena Sarac; Neven Henigsberg; Jasenka Markeljević; Goran Pavlisa; Patric R Hof; Goran Simić
Journal:  Coll Antropol       Date:  2011-01

5.  Neurological and endocrine phenotypes of fragile X carrier women.

Authors:  D Hall; K Todorova-Koteva; S Pandya; B Bernard; B Ouyang; M Walsh; T Pounardjian; C Deburghraeve; L Zhou; M Losh; M Leehey; E Berry-Kravis
Journal:  Clin Genet       Date:  2015-09-04       Impact factor: 4.438

6.  Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.

Authors:  Donald B Bailey; Melissa Raspa; Murrey Olmsted; David B Holiday
Journal:  Am J Med Genet A       Date:  2008-08-15       Impact factor: 2.802

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

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen A Leehey; Deborah A Hall; Richard A Levine; James A Brunberg; Lin Zhang; Tristan Jardini; Louise W Gane; Susan W Harris; Kristin Herman; James Grigsby; Claudia M Greco; Elizabeth Berry-Kravis; Flora Tassone; Paul J Hagerman
Journal:  JAMA       Date:  2004-01-28       Impact factor: 56.272

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.  X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Authors:  Deborah A Hall; Erin E Robertson-Dick; Joan A O'Keefe; Andrew G Hadd; Lili Zhou; Elizabeth Berry-Kravis
Journal:  Neurol Genet       Date:  2016-02-03
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