FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Clinical genetics·2014

New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.

Clinical genetics·2012

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Clinical genetics·2011

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2011

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Clinical genetics·2009