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Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

Genes, brain and behavior, 2015-03, Vol.14 (3), p.251-259

2015

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Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes

Journal of intellectual disability research, 2022-08, Vol.66 (8-9), p.717-725

2022

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β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Scientific reports, 2016-07, Vol.6 (1), p.29366, Article 29366

2016

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Parathyroid hormone-related peptide expression in rat collagen-induced arthritis

Rheumatology (Oxford, England), 2005-09, Vol.44 (9), p.1122-1131

2005

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Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

Translational psychiatry, 2016-12, Vol.6 (12), p.e984-e984

2016

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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 puberty

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524

2013

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Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Genetics in medicine, 2011-05, Vol.13 (5), p.392-399

2011

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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 study

Genetics in medicine, 2013-04, Vol.15 (4), p.290-298

2013

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[beta]-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Scientific reports, 2016-07, Vol.6, p.29366

2016

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Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

Neurobiology of aging, 2017-02, Vol.50, p.5-12

2017

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Genetics in medicine, 2018-12, Vol.20 (12), p.1627-1634

2018

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.304-309

2022

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Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Neurology, 2015-04, Vol.84 (16), p.1631-1638

2015

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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

JAMA network open, 2022-01, Vol.5 (1), p.e2141911-e2141911

2022

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Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

Neurobiology of aging, 2015-03, Vol.36 (3), p.1400-1408

2015

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

American journal of medical genetics. Part A, 2022, Vol.188 (1), p.304-309

2022

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Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Parathyroid hormone-related peptide expression in rat collagen-induced arthritis

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

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 puberty

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

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 study

[beta]-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

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