Results 181 to 190 of about 4,503 (204)
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The fragile X premutation presenting as postprandial hypotension
Neurology, 2004The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder consisting of progressive intention tremor and cerebellar ataxia recently described in men with the premutation (55 to 200 CGG repeats) in the promoter region of the fragile X mental retardation 1 ( FMR1 ) gene1 and with grandchildren with fragile X syndrome (FXS).2
Pugliese P +10 more
openaire +4 more sources
Common Premutations in the General Population
JAMA Neurology, 2019Monia B, Hammer, Andrew B, Singleton
openaire +2 more sources
Detection of a premutation in Japanese myotonic dystrophy
Human Molecular Genetics, 1994Hidehisa Yamagata +10 more
openaire +2 more sources
Dystonia in a Female Fragile X Premutation Carrier
Movement Disorders Clinical Practice, 2021Victoria Ros‐Castelló +5 more
openaire +2 more sources
Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation
Biological Psychiatry, 2016Jane E Roberts +2 more
exaly
Fragile X premutation carriers: A systematic review of neuroimaging findings
Journal of the Neurological Sciences, 2015Stephanie S G Brown, Andrew C Stanfield
exaly
Co‐occurring diagnoses among FMR1 premutation allele carriers
Clinical Genetics, 2010Stephanie L Sherman
exaly

