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Human Molecular Genetics|January 12, 2013
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.
Clinical Chemistry|January 12, 2012
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot studyDavid E Godler, Howard R Slater, Quang M Bui, et al.
Neuro-Degenerative Diseases|September 8, 2016
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia SyndromeDanuta Z Loesch, Sarah J Annesley, Nicholas Trost, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.
Frontiers in Genetics|November 29, 2018
The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) MarkersDanuta Z Loesch, Nicholas Trost, Minh Q Bui, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 27, 2005
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutationDavid Hessl, Flora Tassone, Danuta Z Loesch, et al.
Disease Models & Mechanisms|September 18, 2016
Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activitySarah J Annesley, Sui T Lay, Shawn W De Piazza, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2007
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndromeJim Grigsby, Angela G Brega, Maureen A Leehey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2012
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyYoshimi Inaba, Amy S Herlihy, Charles E Schwartz, et al.
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