Research & Literature

[Chromatin changes caused by CGG repeat expansion in fmr1 gene].

Yudkin DV, Lemskaya NA, Grischenko IV, Dolskiy AA

Molekuliarnaia biologiia 2015; (49(2)):205-11.

Functional analysis and treatment of problem behavior exhibited by children with fragile X syndrome.

Kurtz PF, Chin MD, Robinson AN, et al.

Research in developmental disabilities 2015; (43-44()):150-66.

Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France.

Chevreul K, Berg Brigham K, Brunn M, et al.

Journal of intellectual disability research : JIDR 2015; (59(12)):1108-20 doi:10.1111/jir.12215.

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.

Kalus S, King J, Lui E, Gaillard F

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2016; (23()):162-164 doi:10.1016/j.jocn.2015.08.010.

Characterising repetitive behaviours in young boys with fragile X syndrome.

Oakes A, Thurman AJ, McDuffie A, et al.

Journal of intellectual disability research : JIDR 2016; (60(1)):54-67 doi:10.1111/jir.12234.

Caregiver Preferences for the Treatment of Males with Fragile X Syndrome.

Cross J, Yang JC, Johnson FR, et al.

Journal of developmental and behavioral pediatrics : JDBP 2016; (37(1)):71-9 doi:10.1097/DBP.0000000000000234.

The emergence and stability of attention deficit hyperactivity disorder in boys with fragile X syndrome.

Grefer M, Flory K, Cornish K, et al.

Journal of intellectual disability research : JIDR 2016; (60(2)):167-78 doi:10.1111/jir.12226.

Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index.

Raspa M, Sacco P, Candrilli SD, et al.

Journal of intellectual disability research : JIDR 2016; (60(9)):844-55 doi:10.1111/jir.12264.

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.

Chevreul K, Gandré C, Brigham KB, et al.

The European journal of health economics : HEPAC : health economics in prevention and care 2016; (17 Suppl 1()):43-52 doi:10.1007/s10198-016-0784-3.

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

Tabet R, Moutin E, Becker JA, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(26)):E3619-28 doi:10.1073/pnas.1522631113.

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.

Niemczyk J, von Gontard A, Equit M, et al.

European journal of pediatrics 2016; (175(10)):1325-34 doi:10.1007/s00431-016-2767-x.

The Role of Executive Function in Independent Living Skills in Female Adolescents and Young Adults With Fragile X Syndrome.

Martin A, Quintin EM, Hall SS, Reiss AL

American journal on intellectual and developmental disabilities 2016; (121(5)):448-60 doi:10.1352/1944-7558-121.5.448.

Brief Report: Autism Symptoms in Infants with Fragile X Syndrome.

Roberts JE, Tonnsen BL, McCary LM, et al.

Journal of autism and developmental disorders 2016; (46(12)):3830-3837 doi:10.1007/s10803-016-2903-5.

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.

Rajan-Babu IS, Chong SS

Genes 2016; (7(10)).

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.

Barasoain M, Barrenetxea G, Huerta I, et al.

Genes 2016; (7(12)).

Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.

Kong HE, Zhao J, Xu S, et al.

Frontiers in cellular neuroscience 2017; (11()):128 doi:10.3389/fncel.2017.00128.

Autism Symptoms in Fragile X Syndrome.

Niu M, Han Y, Dy ABC, et al.

Journal of child neurology 2017; (32(10)):903-909 doi:10.1177/0883073817712875.

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

Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L

Clinical genetics 2018; (93(2)):197-205 doi:10.1111/cge.13075.

Paternal transmission of a FMR1 full mutation allele.

Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, et al.

American journal of medical genetics. Part A 2017; (173(10)):2795-2797 doi:10.1002/ajmg.a.38384.

Reducing eIF4E-eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice.

Santini E, Huynh TN, Longo F, et al.

Science signaling 2017; (10(504)) doi:10.1126/scisignal.aan0665.

Fragile X Syndrome: A Rare Case Report with Unusual Oral Features.

Ray P, Singh A, Dash JK, et al.

Contemporary clinical dentistry 2017; (8(4)):650-652 doi:10.4103/ccd.ccd_550_17.

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

Landowska A, Rzońca S, Bal J, Gos M

Developmental period medicine 2018; (22(1)):14-21.

[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]

Elizur S, Berkenstadt M, Ries-Levavi L, et al.

Harefuah 2018; (157(4)):241-244.

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.

Allen EG, Glicksman A, Tortora N, et al.

Frontiers in genetics 2018; (9()):292 doi:10.3389/fgene.2018.00292.

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study.

Hong MP, Eckert EM, Pedapati EV, et al.

Journal of neurodevelopmental disorders 2019; (11(1)):1 doi:10.1186/s11689-019-9262-4.

The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS).

Abu Diab M, Eiges R

Brain sciences 2019; (9(2)) doi:10.3390/brainsci9020042.

[Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

Salcedo-Arellano MJ, Hagerman RJ, Martinez-Cerdeno V

Revista de neurologia 2019; (68(5)):199-206 doi:10.33588/rn.6805.2018457.

New Therapeutic Options for Fragile X Syndrome.

Jalnapurkar I, Cochran DM, Frazier JA

Current treatment options in neurology 2019; (21(3)):12 doi:10.1007/s11940-019-0551-8.

Triplet-Repeat Primed PCR and Capillary Electrophoresis for Characterizing the Fragile X Mental Retardation 1 CGG Repeat Hyperexpansions.

Rajan-Babu IS, Chong SS

Methods in molecular biology (Clifton, N.J.) 2019; (1972()):199-210 doi:10.1007/978-1-4939-9213-3_14.

Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.

Van Remmerden MC, Hoogland L, Mous SE, et al.

Journal of autism and developmental disorders 2020; (50(6)):2174-2187 doi:10.1007/s10803-019-03973-7.

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.

Sachdeva A, Jain P, Gunasekaran V, et al.

Indian pediatrics 2019; (56(3)):221-228.

Infant Social Avoidance Predicts Autism but Not Anxiety in Fragile X Syndrome.

Roberts JE, Crawford H, Will EA, et al.

Frontiers in psychiatry 2019; (10()):199 doi:10.3389/fpsyt.2019.00199.

Social Avoidance Emerges in Infancy and Persists into Adulthood in Fragile X Syndrome.

Roberts J, Crawford H, Hogan AL, et al.

Journal of autism and developmental disorders 2019; (49(9)):3753-3766 doi:10.1007/s10803-019-04051-8.

New Targeted Treatments for Fragile X Syndrome.

Protic D, Salcedo-Arellano MJ, Dy JB, et al.

Current pediatric reviews 2019; (15(4)):251-258 doi:10.2174/1573396315666190625110748.

Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing.

McKechanie AG, Campbell S, Eley SEA, Stanfield AC

Genes 2019; (10(12)) doi:10.3390/genes10121052.

Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.

Sihombing NRB, Cai S, Wong DPW, et al.

Singapore medical journal 2021; (62(3)):143-148 doi:10.11622/smedj.2020009.

Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.

Coffman MC, Shaffer RC, Schmitt LM, et al.

Brain sciences 2020; (10(4)) doi:10.3390/brainsci10040213.

Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder.

Saldarriaga W, Payán-Gómez C, González-Teshima LY, et al.

Journal of developmental and behavioral pediatrics : JDBP 2020; (41(9)):724-728 doi:10.1097/DBP.0000000000000850.

Parent Perspectives on Augmentative and Alternative Communication Integration for Children With Fragile X Syndrome: It Starts in the Home.

Schladant M, Dowling M

Intellectual and developmental disabilities 2020; (58(5)):409-421 doi:10.1352/1934-9556-58.5.409.

Cardiovascular Problems in the Fragile X Premutation.

Tassanakijpanich N, Cohen J, Cohen R, et al.

Frontiers in genetics 2020; (11()):586910 doi:10.3389/fgene.2020.586910.

COVID-19 Infection in a Patient With Fragile-X Syndrome.

Kleiman JD, Veerapaneni K, Escovar J, Orsini J

Cureus 2020; (12(10)):e11266 doi:10.7759/cureus.11266.

Fragile X premutation and associated health conditions: A review.

Tassanakijpanich N, Hagerman RJ, Worachotekamjorn J

Clinical genetics 2021; (99(6)):751-760 doi:10.1111/cge.13924.

Effects of clonidine on progressive ratio schedule performance in Fmr1 knockout mice.

Wrenn CC, French E, Baker D, et al.

Psychopharmacology 2021; (238(4)):1133-1140 doi:10.1007/s00213-021-05760-8.

The molecular biology of FMRP: new insights into fragile X syndrome.

Richter JD, Zhao X

Nature reviews. Neuroscience 2021; (22(4)):209-222 doi:10.1038/s41583-021-00432-0.

Clinical Characteristics of Fragile X Syndrome Patients in Japan.

Okazaki T, Adachi K, Matsuura K, et al.

Yonago acta medica 2021; (64(1)):30-33 doi:10.33160/yam.2021.02.005.

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

Nobile V, Pucci C, Chiurazzi P, et al.

Biomolecules 2021; (11(2)) doi:10.3390/biom11020296.

Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.

Allen EG, Charen K, Hipp HS, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(9)):1648-1655 doi:10.1038/s41436-021-01177-y.

Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial.

Berry-Kravis EM, Harnett MD, Reines SA, et al.

Nature medicine 2021; (27(5)):862-870 doi:10.1038/s41591-021-01321-w.

[Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation].

Luo S, He W, Liao Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(5)):439-445 doi:10.3760/cma.j.cn511374-20200513-00344.

Mosaicism in Fragile X syndrome: A family case series.

Saldarriaga W, González-Teshima LY, Forero-Forero JV, et al.

Journal of intellectual disabilities : JOID 2022; (26(3)):800-807 doi:10.1177/1744629521995346.

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

Xi H, Xie W, Chen J, et al.

Molecular genetics & genomic medicine 2021; (9(7)):e1711 doi:10.1002/mgg3.1711.

Reversal of behavioural phenotype by the cannabinoid-like compound VSN16R in fragile X syndrome mice.

Hurley MJ, Deacon RMJ, Chan AWE, et al.

Brain : a journal of neurology 2022; (145(1)):76-82 doi:10.1093/brain/awab246.

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence.

Marlborough M, Welham A, Jones C, et al.

Journal of neurodevelopmental disorders 2021; (13(1)):28 doi:10.1186/s11689-021-09362-5.

FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability.

Roth M, Ronco L, Cadavid D, et al.

Diagnostics (Basel, Switzerland) 2021; (11(10)) doi:10.3390/diagnostics11101780.

Conducting In-Home Functional Analyses of Aggression and Self-Injury Exhibited by Boys with Fragile X Syndrome.

Monlux KD, Pollard JS, Bujanda Rodriguez AY, Hall SS

Journal of developmental and behavioral pediatrics : JDBP 2022; (43(4)):e237-e245 doi:10.1097/DBP.0000000000001019.

COVID-19 Pandemic: Mental Health in Girls With and Without Fragile X Syndrome.

Jordan TL, Bartholomay KL, Lee CH, et al.

Journal of pediatric psychology 2022; (47(1)):25-36 doi:10.1093/jpepsy/jsab106.

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.

Elias-Mas A, Alvarez-Mora MI, Caro-Benito C, Rodriguez-Revenga L

Frontiers in psychiatry 2021; (12()):728952 doi:10.3389/fpsyt.2021.728952.

Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.

Dominick KC, Andrews HF, Kaufmann WE, et al.

Journal of child and adolescent psychopharmacology 2021; (31(10)):659-669 doi:10.1089/cap.2021.0042.

Identity and Reproductive Aspects in Females with Fragile X Syndrome.

Reiss S, Zalles L, Gbekie C, Lozano R

Women's health reports (New Rochelle, N.Y.) 2021; (2(1)):500-506 doi:10.1089/whr.2021.0059.

Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.

Almansour A, Ishiura H, Mitsui J, et al.

Cerebellum (London, England) 2022; (21(6)):954-962 doi:10.1007/s12311-021-01329-5.

Fragile X Premutation: Medications, Therapy and Lifestyle Advice.

Sodhi DK, Hagerman R

Pharmacogenomics and personalized medicine 2021; (14()):1689-1699 doi:10.2147/PGPM.S338846.

Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review.

Cregenzán-Royo O, Brun-Gasca C, Fornieles-Deu A

Genes 2022; (13(2)) doi:10.3390/genes13020280.

Attention/Deficit Hyperactivity Disorder in Adolescent and Young Adult Males With Fragile X Syndrome.

Klusek J, O'Connor SL, Hickey A, et al.

American journal on intellectual and developmental disabilities 2022; (127(3)):213-230 doi:10.1352/1944-7558-127.3.213.

Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.

Rajan-Babu IS, Lian M, Chong SS

Current protocols 2022; (2(5)):e427 doi:10.1002/cpz1.427.

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.

Albizua I, Charen K, Shubeck L, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e2001 doi:10.1002/mgg3.2001.

Case Reports of Aortic Aneurism in Fragile X Syndrome.

Lewis S, DePass A, Hagerman RJ, Lozano R

Genes 2022; (13(9)) doi:10.3390/genes13091560.

Anxiety, Depression, and Social Skills in Girls with Fragile X Syndrome: Understanding the Cycle to Improve Outcomes.

Lightbody AA, Bartholomay KL, Jordan TL, et al.

Journal of developmental and behavioral pediatrics : JDBP 2022; (43(9)):e565-e572 doi:10.1097/DBP.0000000000001128.

The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).

Poteet B, Ali N, Bellcross C, et al.

Journal of assisted reproduction and genetics 2023; (40(1)):179-190 doi:10.1007/s10815-022-02671-1.

The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study.

Jalnapurkar I, Frazier JA, Roth M, et al.

Journal of neurodevelopmental disorders 2022; (14(1)):57 doi:10.1186/s11689-022-09465-7.

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

Kartanou C, Seferiadi M, Pomoni S, et al.

Parkinsonism & related disorders 2023; (107()):105253 doi:10.1016/j.parkreldis.2022.105253.

"Corp-Osa-Mente", a Combined Psychosocial-Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.

Montanaro FAM, Alfieri P, Vicari S

Brain sciences 2023; (13(2)) doi:10.3390/brainsci13020277.

Dietary fish oil improves autistic behaviors and gut homeostasis by altering the gut microbial composition in a mouse model of fragile X syndrome.

Guo P, Yang X, Guo X, et al.

Brain, behavior, and immunity 2023; (110()):140-151 doi:10.1016/j.bbi.2023.02.019.

The incidence and clinical characteristics of fragile X syndrome in China.

Mei L, Hu C, Li D, et al.

Frontiers in pediatrics 2023; (11()):1064104 doi:10.3389/fped.2023.1064104.

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.

Ciobanu CG, Nucă I, Popescu R, et al.

International journal of molecular sciences 2023; (24(11)) doi:10.3390/ijms24119206.

Phenotypic variability to medication management: an update on fragile X syndrome.

Elhawary NA, AlJahdali IA, Abumansour IS, et al.

Human genomics 2023; (17(1)):60 doi:10.1186/s40246-023-00507-2.

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder.

Chubick A, Wang E, Au C, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081518.

FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation.

Yu J, Woo Y, Kim H, et al.

International journal of molecular sciences 2023; (24(22)) doi:10.3390/ijms242216319.

Language Skills Influence Transition Planning in Adolescents With Fragile X Syndrome.

Boorom O, Fielding-Gebhardt H, Bredin-Oja S, et al.

American journal on intellectual and developmental disabilities 2024; (129(1)):56-72 doi:10.1352/1944-7558-129.1.56.

State-of-the-art therapies for fragile X syndrome.

Protic D, Hagerman R

Developmental medicine and child neurology 2024; (66(7)):863-871 doi:10.1111/dmcn.15885.

FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.

Jiraanont P, Zafarullah M, Sulaiman N, et al.

The Journal of molecular diagnostics : JMD 2024; (26(6)):498-509 doi:10.1016/j.jmoldx.2024.02.007.

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

Tak Y, Schneider A, Santos E, et al.

Genes 2024; (15(3)) doi:10.3390/genes15030331.

Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.

Randol JL, Kim K, Ponzini MD, et al.

Genes 2024; (15(3)) doi:10.3390/genes15030356.

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.

Agusti I, Alvarez-Mora MI, Wijngaard R, et al.

Journal of ovarian research 2024; (17(1)):103 doi:10.1186/s13048-024-01425-0.

Assessment of the excitation-inhibition ratio in the Fmr1 KO2 mouse using neuronal oscillation dynamics.

Kat R, Linkenkaer-Hansen K, Koopmans MA, et al.

Cerebral cortex (New York, N.Y. : 1991) 2024; (34(5)) doi:10.1093/cercor/bhae201.

From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.

Sandoval SO, Méndez-Albelo NM, Xu Z, Zhao X

Journal of neurodevelopmental disorders 2024; (16(1)):30 doi:10.1186/s11689-024-09545-w.

Description and predictors of self-determination in males and females with fragile X syndrome on the verge of adulthood.

Friedman L, Moser C, Thurman AJ, et al.

Journal of intellectual disability research : JIDR 2024; (68(11)):1316-1330 doi:10.1111/jir.13182.

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

Maltman N, Sterling A, Santos E, Hagerman R

Scientific reports 2024; (14(1)):20707 doi:10.1038/s41598-024-70810-y.

Effects of a combined neuropsychological and cognitive behavioral group therapy on young adults with Fragile X Syndrome: An explorative study.

Montanaro FAM, Alfieri P, Caciolo C, et al.

Research in developmental disabilities 2024; (154()):104839 doi:10.1016/j.ridd.2024.104839.

A near normal distribution of IQ in Fragile X Syndrome.

Schmitt LM, Nelson M, Shaffer RC, Erickson CA

Scientific reports 2024; (14(1)):23058 doi:10.1038/s41598-024-73626-y.

Prevalence and implications of fragile X premutation screening in Thailand.

Hnoonual A, Kaewfai S, Limwongse C, Limprasert P

Scientific reports 2024; (14(1)):26257 doi:10.1038/s41598-024-77762-3.

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.

Protic D, Breeze E, Mendoza G, et al.

SAGE open medicine 2024; (12()):20503121241282401 doi:10.1177/20503121241282401.

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Protic D, Polli R, Bettella E, et al.

International journal of molecular sciences 2024; (25(24)) doi:10.3390/ijms252413681.

Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.

Genovese AC, Butler MG

Genes 2025; (16(2)) doi:10.3390/genes16020149.

Emerging autism and Fragile X syndrome treatments.

Parkhill M, Salmaso N, D'Angiulli A, et al.

Trends in pharmacological sciences 2025; (46(4)):357-371 doi:10.1016/j.tips.2025.02.004.

Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.

Fazna A, Hagerman RJ

Medical review (2021) 2025; (5(2)):164-173 doi:10.1515/mr-2024-0060.

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome.

Farmiloe G, Bejczy V, Tabolacci E, et al.

Journal of neurodevelopmental disorders 2025; (17(1)):22 doi:10.1186/s11689-025-09609-5.

Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments.

Stanfield AC, McKechanie AG

Expert review of neurotherapeutics 2025; (25(7)):857-867 doi:10.1080/14737175.2025.2510408.

Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Au CWM, Luk HM, Ho S, et al.

Hong Kong medical journal = Xianggang yi xue za zhi 2025; (31(3)):199-207 doi:10.12809/hkmj2411942.

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.

Hnoonual A, Plong-On O, Tangviriyapaiboon D, et al.

International journal of molecular sciences 2025; (26(15)) doi:10.3390/ijms26157418.

ROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers.

Norris JE, Berry-Kravis EM, Harnett MD, et al.

Translational psychiatry 2025; (15(1)):323 doi:10.1038/s41398-025-03558-2.

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations.

Roche-Martínez A, Ramírez-Mallafré A, Joga-Elvira L, et al.

International journal of molecular sciences 2025; (26(20)) doi:10.3390/ijms262010101.

The Emerging Role of Phosphodiesterase Inhibitors in Fragile X Syndrome and Autism Spectrum Disorder.

Thomas SD, Mohammed HA, Hamad MIK, et al.

Pharmaceuticals (Basel, Switzerland) 2025; (18(10)) doi:10.3390/ph18101507.

Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference.

Morrison DE, Ponzini MD, Santos ER, et al.

Brain communications 2026; (8(1)):fcaf483 doi:10.1093/braincomms/fcaf483.

REV1 inhibition enhances trinucleotide repeat mutagenesis.

Siegel A, Almstead D, Kothandaraman N, et al.

Open biology 2025; (15(12)) doi:10.1098/rsob.250234.