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Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation

Scientific reports, 2024-09, Vol.14 (1), p.20707-10, Article 20707

2024

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Towards Mechanism-based Treatments for Fragile X Syndrome

2019

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POS1394-HPR THE IMPACT OF FIBROMYALGIA ON THE SLEEP AND QUALITY OF LIFE IN WOMEN WITH FMR1 GENE PREMUTATION WITH AND WITHOUT FIBROMYALGIA

Annals of the rheumatic diseases, 2023-06, Vol.82 (Suppl 1), p.1050-1050

2023

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Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP

Proceedings of the National Academy of Sciences - PNAS, 2023-07, Vol.120 (27), p.e2302534120

2023

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PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Genes, 2024-01, Vol.15 (1), p.6

2024

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Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila

The EMBO journal, 2021-02, Vol.40 (4), p.e104975-n/a

2021

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells (Basel, Switzerland), 2023-09, Vol.12 (18), p.2330

2023

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Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63523-n/a

2024

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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63479-n/a

2024

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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome

Brain and cognition, 2020-03, Vol.139, p.105511-105511, Article 105511

2020

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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

Genes, 2022-09, Vol.13 (9), p.1609

2022

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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort

Movement disorders, 2021-10, Vol.36 (10), p.2378-2386

2021

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Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene

Molecular neurobiology, 2023-04, Vol.60 (4), p.2051-2061

2023

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Parallel Social Information Processing Circuits Are Differentially Impacted in Autism

Neuron (Cambridge, Mass.), 2020-11, Vol.108 (4), p.659-675.e6

2020

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Fragile X syndrome: An overview and update of the FMR1 gene

Clinical genetics, 2018-02, Vol.93 (2), p.197-205

2018

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Audiogenic Seizures in the Fmr1 Knock-Out Mouse Are Induced by Fmr1 Deletion in Subcortical, VGlut2-Expressing Excitatory Neurons and Require Deletion in the Inferior Colliculus

The Journal of neuroscience, 2019-12, Vol.39 (49), p.9852-9863

2019

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Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up‐regulation of Fmr1 gene expression in rat cerebellum

Alcoholism, clinical and experimental research, 2021-10, Vol.45 (10), p.2006-2016

2021

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Mouse models of fragile X-related disorders

Disease models & mechanisms, 2023-02, Vol.16 (2)

2023

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Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice

The Journal of physiology, 2024-08, Vol.602 (15), p.3769-3791

2024

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Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile

Developmental neuropsychology, 2024-07, Vol.49 (4), p.153-166

2024

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Aberrant hyperexpression of the RNA binding protein FMRP in tumors mediates immune evasion

Science (American Association for the Advancement of Science), 2022-11, Vol.378 (6621), p.eabl7207-eabl7207

2022

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Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

Science translational medicine, 2020-05, Vol.12 (544)

2020

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FMRP links optimal codons to mRNA stability in neurons

Proceedings of the National Academy of Sciences - PNAS, 2020-12, Vol.117 (48), p.30400-30411

2020

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Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in psychiatry, 2018-11, Vol.9, p.564

2018

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Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons

The European journal of neuroscience, 2020-05, Vol.51 (10), p.2143-2157

2020

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Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation

Towards Mechanism-based Treatments for Fragile X Syndrome

POS1394-HPR THE IMPACT OF FIBROMYALGIA ON THE SLEEP AND QUALITY OF LIFE IN WOMEN WITH FMR1 GENE PREMUTATION WITH AND WITHOUT FIBROMYALGIA

Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP

PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort

Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene

Parallel Social Information Processing Circuits Are Differentially Impacted in Autism

Fragile X syndrome: An overview and update of the FMR1 gene

Audiogenic Seizures in the Fmr1 Knock-Out Mouse Are Induced by Fmr1 Deletion in Subcortical, VGlut2-Expressing Excitatory Neurons and Require Deletion in the Inferior Colliculus

Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up‐regulation of Fmr1 gene expression in rat cerebellum

Mouse models of fragile X-related disorders

Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice

Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile

Aberrant hyperexpression of the RNA binding protein FMRP in tumors mediates immune evasion

Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

FMRP links optimal codons to mRNA stability in neurons

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons

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