Rett Research Publications
IRSF funds trailblazing research seeking treatments and a cure for Rett syndrome. Through our funding and the Rett Syndrome NHS, hundreds of published works and counting inform the research happening today on Rett and Rett-related disorders.
IRSF-Funded Publications
Publications that directly benefitted from research funding provided by IRSF. We proudly support pioneering research seeking to expand our fundamental knowledge and develop treatments and cures.
2024PUBLICATIONS
2024
PUBLICATIONS
Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA
Reautschnig, P., Fruhner, C., Wahn, N., Wiegand, C. P., Kragness, S., Yung, J. F., Hofacker, D. T., Fisk, J., Eidelman, M., Waffenschmidt, N., Feige, M., Pfeiffer, L. S., Schulz, A. E., Füll, Y., Levanon, E. Y., Mandel, G., & Stafforst, T. (2024). Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA. Nature biotechnology, 10.1038/s41587-024-02313-0. Advance online publication. https://doi.org/10.1038/s41587-024-02313-0
Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome
Dong, H. W., Weiss, K., Baugh, K., Meadows, M. J., Niswender, C. M., & Neul, J. L. (2024). Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics : The Journal of the American Society for Experimental NeuroTherapeutics, 21(4), e00384. https://doi.org/10.1016/j.neurot.2024.e00384
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Merritt, J. K., Fang, X., Caylor, R. C., Skinner, S. A., Friez, M. J., Percy, A. K., & Neul, J. L. (2024). Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome. Genes, 15(5), 594. https://doi.org/10.3390/genes15050594
MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons
Liu, Y., Flamier, A., Bell, G. W., Diao, A. J., Whitfield, T. W., Wang, H. C., Wu, Y., Schulte, F., Friesen, M., Guo, R., Mitalipova, M., Liu, X. S., Vos, S. M., Young, R. A., & Jaenisch, R. (2024). MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Neuron, 112(12), 1943–1958.e10. https://doi.org/10.1016/j.neuron.2024.04.007
Potentiation of the M 1 muscarinic acetylcholine receptor normalizes neuronal activation patterns and improves apnea severity in Mecp2+/- mice
Smith, M., Dodis, G. E., Vanderplow, A. M., Gonzalez, S., Rhee, Y., & Gogliotti, R. G. (2024). Potentiation of the M 1 muscarinic acetylcholine receptor normalizes neuronal activation patterns and improves apnea severity in Mecp2+/- mice. bioRxiv : The Preprint Server for Biology, 2024.04.15.586099. https://doi.org/10.1101/2024.04.15.586099
Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders
Suter, B., Pehlivan, D., Ak, M., Harris, H. K., & Lyons-Warren, A. M. (2024). Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders. Autism Research : Official Journal of the International Society for Autism Research, 17(4), 775–784. https://doi.org/10.1002/aur.3112
MECP2-related disorders while gene-based therapies are on the horizon
Allison, K., Maletic-Savatic, M., & Pehlivan, D. (2024). MECP2-related disorders while gene-based therapies are on the horizon. Frontiers in Genetics, 15, 1332469. https://doi.org/10.3389/fgene.2024.1332469
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
Pehlivan, D., Aras, S., Glaze, D. G., Ak, M., Suter, B., & Motil, K. J. (2024). Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome. Orphanet Journal of Rare Diseases, 19(1), 52. https://doi.org/10.1186/s13023-024-03022-2
Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome
Tiberi, A., Borgonovo, G., Testa, G., Pacifico, P., Jacob, A., Di Caprio, M., Totaro, V., Calvello, M., Cattaneo, A., & Capsoni, S. (2024). Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome. Brain : A Journal of Neurology, 147(1), 122–134. https://doi.org/10.1093/brain/awad282
2023PUBLICATIONS
2023
PUBLICATIONS
Ayres Sensory Integration Therapy for a Child With Rett Syndrome: A Case Report
Rocco, K., Drobnyk, W., Bruce, S., & Soumerai, S. B. (2023). Ayres Sensory Integration Therapy for a Child With Rett Syndrome: A Case Report. Clinical Medicine Insights. Pediatrics, 17, 11795565231188939. https://doi.org/10.1177/11795565231188939
Trofinetide: a pioneering treatment for Rett syndrome
Parent, H., Ferranti, A., & Niswender, C. (2023). Trofinetide: a pioneering treatment for Rett syndrome. Trends in Pharmacological Sciences, 44(10), 740–741. https://doi.org/10.1016/j.tips.2023.06.008
Differential dynamics specify MeCP2 function at methylated DNA and nucleosomes
Chua, G. N. L., Watters, J. W., Olinares, P. D. B., Begum, M., Vostal, L. E., Luo, J. A., Chait, B. T., & Liu, S. (2024). Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA. Nature Structural & Molecular Biology, 10.1038/s41594-024-01373-9. Advance online publication. https://doi.org/10.1038/s41594-024-01373-9
Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure
Oberman, L. M., Leonard, H., Downs, J., Cianfaglione, R., Stahlhut, M., Larsen, J. L., Madden, K. V., & Kaufmann, W. E. (2023). Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure. American Journal on Intellectual and Developmental Disabilities, 128(3), 237–253. https://doi.org/10.1352/1944-7558-128.3.237
Exploring gastrointestinal health in MECP2 duplication syndrome
Pehlivan, D., Ak, M., Glaze, D. G., Suter, B., & Motil, K. J. (2023). Exploring gastrointestinal health in MECP2 duplication syndrome. Neurogastroenterology and Motility, 35(8), e14601. https://doi.org/10.1111/nmo.14601
Rett syndrome behaviour questionnaire in children and adults with Rett syndrome: psychometric characterization and revised factor structure
Oberman L., Leonard H., Downs J., Cianfaglione R., Stahlhut M., Larsen J., Madden K., & Kaufmann W. (2023) Rett syndrome behaviour questionnaire in children and adults with Rett syndrome: psychometric characterization and revised factor structure. American Journal on Intellectual and Developmental Disabilities, 128 (3): 237–253. https://doi.org/10.1352/1944-7558-128.3.237
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
Kay, C., Leonard, H., Smith, J., Wong, K., & Downs, J. (2023). Genotype and sleep independently predict mental health in Rett syndrome: an observational study. Journal of Medical Genetics, 60(10), 951–959. https://doi.org/10.1136/jmg-2022-108905
Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome
Mykins, M., Layo-Carris, D., Dunn, L. R., Skinner, D. W., McBryar, A. H., Perez, S., Shultz, T. R., Willems, A., Lau, B. Y. B., Hong, T., & Krishnan, K. (2023). Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome. Journal of Neuroscience Research, 101(8), 1236–1258. https://doi.org/10.1002/jnr.25190
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Neul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Silveira, L., Fu, C., Peters, S. U., Percy, A. K., & Rett syndrome Natural History Study Group (2023). Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. Journal of Neurodevelopmental Disorders, 15(1), 33. https://doi.org/10.1186/s11689-023-09502-z
2022PUBLICATIONS
2022
PUBLICATIONS
Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome-A Single-Cohort Study
Romano, A., Ippolito, E., Favetta, M., Lotan, M., & Moran, D. S. (2022). Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome-A Single-Cohort Study. International Journal of Environmental Research and Public Health, 20(1), 659. https://doi.org/10.3390/ijerph20010659
Long-term cortical plasticity following sensory deprivation is reduced in male Rett model mice
Farhoomand, F., & Delaney, K. R. (2023). Long-term cortical plasticity following sensory deprivation is reduced in male Rett model mice. Somatosensory & Motor Research, 40(4), 133–140. https://doi.org/10.1080/08990220.2022.2158799
Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial
Downs, J., Blackmore, A. M., Wong, K., Buckley, N., Lotan, M., Elefant, C., Leonard, H., & Stahlhut, M. (2023). Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial. Developmental Medicine and Child Neurology, 65(4), 489–497. https://doi.org/10.1111/dmcn.15436
State-of-the-art therapies for Rett syndrome
Panayotis, N., Ehinger, Y., Felix, M. S., & Roux, J. C. (2023). State-of-the-art therapies for Rett syndrome. Developmental Medicine and Child Neurology, 65(2), 162–170. https://doi.org/10.1111/dmcn.15383
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures
Ak, M., Suter, B., Akturk, Z., Harris, H., Bowyer, K., Mignon, L., Pasupuleti, S., Glaze, D. G., & Pehlivan, D. (2022). Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures. Molecular Genetics & Genomic Medicine, 00, e1989.
https://doi.org/10.1002/mgg3.1989
Human brain models of intellectual disability: experimental advances and novelties
Merckx, N.L.L., & Esch, H.V. (2022). Human brain models of intellectual disability: experimental advances and novelties. International Journal of Molecular Sciences, 2022, 23, 6476.
https://doi.org/10.3390/ijms23126476
Clinical and Preclinical Evidence for M(1) Muscarinic Acetylcholine Receptor Potentiation as a Therapeutic Approach for Rett Syndrome
Smith, M., Arthur, B., Cikowski, J., Holt, C., Gonzalez, S., Fisher, N. M., Vermudez, S. A. D., Lindsley, C. W., Niswender, C. M., & Gogliotti, R. G. (2022). Clinical and Preclinical Evidence for M1 Muscarinic Acetylcholine Receptor Potentiation as a Therapeutic Approach for Rett Syndrome. Neurotherapeutics : The Journal of the American Society for Experimental NeuroTherapeutics, 19(4), 1340–1352. https://doi.org/10.1007/s13311-022-01254-3
Assessing the Burden on Caregivers of MECP2 Duplication Syndrome
Ak, M., Akturk, Z., Bowyer, K., Mignon, L., Pasupuleti, S., Glaze, D. G., Suter, B., & Pehlivan, D. (2022). Assessing the Burden on Caregivers of MECP2 Duplication Syndrome. Pediatric Neurology, 133, 1–8. https://doi.org/10.1016/j.pediatrneurol.2022.05.008
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Buchanan, C., Stallworth, J., Joy A., Dixon, R., Scott, A., Beisang, A., Benke, T., Glaze, D., Haas, R., Heydemann, P., Jones, M., Lane, J., Lieberman ,D., Marsh, E., Neul, J., Peters, S., Ryther, R., Skinner, S., Standridge S., Kaufmann, W., & Percy, A. (2022). Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. Journal of Neurodevelopmental Disorders, 14(1), 31. https://doi.org/10.1186/s11689-022-09432-2
Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model
Ribeiro, M., & MacDonald, J. (2022). Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model. Neurobiology of Disease, 165, 105636. https://doi.org/10.1016/j.nbd.2022.105636
Enablers and barriers in dental attendance in Rett syndrome: an international observational study
Lai, Y. Y. L., Downs, J. A., Wong, K., Zafar, S., Walsh, L. J., & Leonard, H. M. (2022). Enablers and barriers in dental attendance in Rett syndrome: an international observational study. Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, 42(6), 565–574. https://doi.org/10.1111/scd.12712
Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome
Grimm, N. B., & Lee, J. T. (2022). Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome. Trends in Genetics : TIG, 38(9), 920–943. https://doi.org/10.1016/j.tig.2022.01.007
Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model
Ribeiro, M. C., & MacDonald, J. L. (2022). Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model. Neurobiology of Disease, 165, 105636. Advance online publication. https://doi.org/10.1016/j.nbd.2022.105636
Intensive postural and motor activity program reduces scoliosis progression in people with Rett syndrome
Romano, A., Ippolito, E., Risoli, C., Malerba, E., Favetta, M., Sancesario, A., Lotan, M., & Moran, D. S. (2022). Intensive postural and motor activity program reduces scoliosis progression in people with Rett syndrome. Journal of Clinical Medicine, 11(3), 559. https://doi.org/10.3390/jcm11030559
CLUSTER guide RNAs enable precise and efficient RNA editing with endogenous ADAR enzymes in vivo
Reautschnig, P., Wahn, N., Wettengel, J., Schulz, A. E., Latifi, N., Vogel, P., Kang, T. W., Pfeiffer, L. S., Zarges, C., Naumann, U., Zender, L., Li, J. B., & Stafforst, T. (2022). CLUSTER guide RNAs enable precise and efficient RNA editing with endogenous ADAR enzymes in vivo. Nature Biotechnology, 40(5), 759–768. https://doi.org/10.1038/s41587-021-01105-0
2021PUBLICATIONS
2021
PUBLICATIONS
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
Abdala, B. B., Gonçalves, A. P., Dos Santos, J. M., Boy, R., de Carvalho, C., Grochowski, C. M., Krepischi, A., Rosenberg, C., Gusmão, L., Pehlivan, D., Pimentel, M., & Santos-Rebouças, C. B. (2021). Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. European Journal of Medical Genetics, 64(12), 104367. https://doi.org/10.1016/j.ejmg.2021.104367
Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice
Sinnett, S. E., Boyle, E., Lyons, C., & Gray, S. J. (2021). Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice. Brain : a journal of neurology, 144(10), 3005–3019. https://doi.org/10.1093/brain/awab182
Rett syndrome and Fragile X syndrome: different etiology with common molecular dysfunctions
Bach, S., Shovlin, S., Moriarty, M., Bardoni, B., & Tropea, D. (2021). Rett syndrome and Fragile X syndrome: different etiology with common molecular dysfunctions. Frontiers in cellular neuroscience, 15, 764761. https://doi.org/10.3389/fncel.2021.764761
Parent and therapist perspectives on “uptime” activities and participation in Rett syndrome
Buckley, N., Stahlhut, M., Elefant, C., Leonard, H., Lotan, M., & Downs, J. (2022). Parent and therapist perspectives on “uptime” activities and participation in Rett syndrome. Disability and rehabilitation, 44(24), 7420–7427. https://doi.org/10.1080/09638288.2021.1992026
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
Abdala, B. B., Gonçalves, A. P., Dos Santos, J. M., Boy, R., de Carvalho, C., Grochowski, C. M., Krepischi, A., Rosenberg, C., Gusmão, L., Pehlivan, D., Pimentel, M., & Santos-Rebouças, C. B. (2021). Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. European Journal of Medical Genetics, 64(12), 104367. https://doi.org/10.1016/j.ejmg.2021.104367
Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome
Marballi, K., & MacDonald, J. (2021). Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome. Neurochemistry International, 148. https://doi.org/10.1016/j.neuint.2021.105076
Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home
Romano, A., Di Rosa, G., Tisano, A., Fabio, R. A., & Lotan, M. (2021). Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home. Disability and Rehabilitation, 44(20), 5898–5908. https://doi.org/10.1080/09638288.2021.1949398
Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study
Lai, Y. Y. L., Downs, J. A., Wong, K., Zafar, S., Walsh, L. J., & Leonard, H. M. (2023). Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study. Oral Diseases, 29(1), 220–231. https://doi.org/10.1111/odi.13924
Systematic analysis of goal-related movement sequences during maternal behaviour in a female mouse model for Rett syndrome
Stevenson, P. K., Casenhiser, D. M., Lau, B. Y. B., & Krishnan, K. (2021). Systematic analysis of goal-related movement sequences during maternal behaviour in a female mouse model for Rett syndrome. The European Journal of Neuroscience, 54(2), 4528–4549. https://doi.org/10.1111/ejn.15327
Measures of attention in Rett syndrome: Internal consistency reliability
Rose, S. A., Wass, S. V., Jankowski, J. J., & Djukic, A. (2021). Measures of attention in Rett syndrome: Internal consistency reliability. Neuropsychology, 35(6), 595–608. https://doi.org/10.1037/neu0000744
Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model
Vermudez, S., Gogliotti, R., Arthur, B., Buch, A., Morales, C., Moxley ,Y., Rajpal, H., Conn, P., & Niswender, C. (2021). Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model. Genes, Brain, and Behavior, 21(1), e12752. https://doi.org/10.1111/gbb.12752
Systematic analysis of goal-related movement sequences during maternal behaviour in a female mouse model for Rett syndrome
Stevenson, P., Casenhiser, D., Lau, B., & Krishnan, K. (2021). Systematic analysis of goal-related movement sequences during maternal behaviour in a female mouse model for Rett syndrome. European Journal of Neuroscience, 54(2): 4528-4549. https://doi.org/10.1111/ejn.15327
Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome
Marballi, K., & MacDonald, J. (2021). Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome. Neurochemistry International, 148, 105076. https://doi.org/10.1016/j.neuint.2021.105076
Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome
Thapa, S., Venkatachalam, A., Khan, N., Naqvi, M., Balderas, M., Runge, J. K., Haag, A., Hoch, K. M., Glaze, D. G., Luna, R. A., & Motil, K. J. (2021). Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome. PLoS ONE 16(5): e0251231. https://doi.org/10.1371/journal.pone.0251231
Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice
Sinnett, S., Boyle, E., Lyons, C., & Gray, S. (2021). Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice. Brain,144(10), 3005-3019. https://doi.org/10.1093/brain/awab182
Multisite Study of Evoked Potentials in Rett Syndrome
Saby, J. N., Benke, T. A., Peters, S. U., Standridge, S. M., Matsuzaki, J., Cutri-French, C., Swanson, L. C., Lieberman, D. N., Key, A. P., Percy, A. K., Neul, J. L., Nelson, C. A., Roberts, T. P. L., & Marsh, E. D. (2021). Multisite Study of Evoked Potentials in Rett Syndrome. Annals of Neurology, 89(4), 790–802. https://doi.org/10.1002/ana.26029
2020PUBLICATIONS
2020
PUBLICATIONS
Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome
Matagne, V., Borloz, E., Ehinger, Y., Saidi, L., Villard, L., & Roux, J.C. (2020). Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome. Neurobiology of Disease, 149, 105235. https://doi.org/10.1016/j.nbd.2020.105235
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders
Bach, S., Ryan, N. M., Guasoni, P., Corvin, A. P., El-Nemr, R. A., Khan, D., Sanfeliu, A., & Tropea, D. (2020). Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders. Scientific Reports, 10(1), 22255. https://doi.org/10.1038/s41598-020-79268-0
Implementing telehealth support to increase physical activity in girls and women with Rett syndrome—ActivRett: protocol for a waitlist randomised controlled trial
Downs, J., Lotan, M., Elefant, C., Leonard, H., Wong, K., Buckley, N., & Stahlhut, M. (2020). Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial. BMJ Open, 10(12), e042446. https://doi.org/10.1136/bmjopen-2020-042446
Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome
Adcock K.S., Chandler C., Buell E.P., Solorzano B.R., Loerwald K.W., Borland M.S., & Engineer C.T. (2020). Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome. Brain Stimulation, 13(6), 1494-1503.
https://doi.org/10.1016/j.brs.2020.08.006
Deficits in skilled motor and auditory learning in a rat model of Rett syndrome
Adcock, K. S., Blount, A. E., Morrison, R. A., Alvarez-Dieppa, A., Kilgard, M. P., Engineer, C. T., & Hays, S. A. (2020). Deficits in skilled motor and auditory learning in a rat model of Rett syndrome. Journal of Neurodevelopmental Disorders, 12(1), 27. https://doi.org/10.1186/s11689-020-09330-5
Multisystem comorbidities in classic Rett syndrome: a scoping review
Fu, C., Armstrong, D., Marsh, E., Lieberman, D., Motil, K., Witt, R., Standridge, S., Lane, J., Dinkel, T., Jones, M., Hale, K., Suter, B., Glaze, D., Neul, J., Percy, A., & Benke, T. (2020). Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatrics Open, 4(1), e000731. https://doi.org/10.1136/bmjpo-2020-000731
Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome
Merritt, J., Collins, B., Erickson, K., Dong, H., & Neul, J. (2020). Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome. Human Molecular Genetics, 29(15), 2461–2470. https://doi.org/10.1093/hmg/ddaa102
Determinants of quality of life in Rett syndrome: new findings on associations with genotype
Mendoza, J., Downs, J., Wong, K., & Leonard, H. (2021). Determinants of quality of life in Rett syndrome: new findings on associations with genotype. Journal of Medical Genetics, 58(9), 637–644. https://doi.org/10.1136/jmedgenet-2020-107120
Functional network mapping reveals state-dependent response to IGF1 treatment in Rett syndrome
Keogh, C., Pini, G., Gemo, I., Kaufmann, W.E., Tropea, D. (2020). Functional network mapping reveals state-dependent response to IGF1 treatment in Rett syndrome. Brain Sciences, 10(8), 515. https://doi.org/10.3390/brainsci10080515
Development of consensus-based guidelines for managing communication of individuals with Rett syndrome
Townend, G.S., Bartolotta, T.E., Urbanowicz, A., Wandin, H., Curfs, L.M.G. (2020). Development of consensus-based guidelines for managing communication of individuals with Rett syndrome. Augmentative and Alternative Communication, 36(2), 71–81. https://doi.org/10.1080/07434618.2020.1785009
Differential coassembly of α1-GABAARs associated with epileptic encephalopathy
Hannan, S., Affandi, A. H. B., Minere, M., Jones, C., Goh, P., Warnes, G., Popp, B., Trollmann, R., Nizetic, D., & Smart, T. G. (2020). Differential coassembly of α1-GABAARs associated with epileptic encephalopathy. The Journal of Neuroscience : The Official Journal of the Society for Neuroscience, 40(29), 5518–5530. https://doi.org/10.1523/JNEUROSCI.2748-19.2020
Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
Aldinger, K. A., Timms, A. E., MacDonald, J. W., McNamara, H. K., Herstein, J. S., Bammler, T. K., Evgrafov, O. V., Knowles, J. A., & Levitt, P. (2020). Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain. Scientific Data, 7(1), 192. https://doi.org/10.1038/s41597-020-0527-2
Vitamin D supplementation rescues aberrant NF-κB pathway activation and partially ameliorates Rett syndrome phenotypes in Mecp2 mutant mice
Ribeiro, M. C., Moore, S. M., Kishi, N., Macklis, J. D., & MacDonald, J. L. (2020). Vitamin D Supplementation Rescues Aberrant NF-κB Pathway Activation and Partially Ameliorates Rett Syndrome Phenotypes in Mecp2 Mutant Mice. eNeuro, 7(3), ENEURO.0167-20.2020. https://doi.org/10.1523/ENEURO.0167-20.2020
Lateralized expression of cortical perineuronal nets during maternal experience is dependent on MECP2
Lau, B. Y. B., Layo, D. E., Emery, B., Everett, M., Kumar, A., Stevenson, P., Reynolds, K. G., Cherosky, A., Bowyer, S. H., Roth, S., Fisher, D. G., McCord, R. P., & Krishnan, K. (2020). Lateralized expression of cortical perineuronal nets during maternal experience is dependent on MECP2. eNeuro, 7(3), ENEURO.0500-19.2020. https://doi.org/10.1523/ENEURO.0500-19.2020
Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation
Pejhan, S., Siu, V. M., Ang, L. C., Del Bigio, M. R., & Rastegar, M. (2020). Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. Neuropathology and Applied Neurobiology, 46(7), 735–750. https://doi.org/10.1111/nan.12619
AIM2 inflammasome surveillance of DNA damage shapes neurodevelopment
Lammert, C. R., Frost, E. L., Bellinger, C. E., Bolte, A. C., McKee, C. A., Hurt, M. E., Paysour, M. J., Ennerfelt, H. E., & Lukens, J. R. (2020). AIM2 inflammasome surveillance of DNA damage shapes neurodevelopment. Nature, 580(7805), 647–652. https://doi.org/10.1038/s41586-020-2174-3
Maternal Experience-Dependent Cortical Plasticity in mice Is Circuit- and Stimulus-Specific and Requires MECP2
Billy Y.B. Lau, Keerthi Krishnan, Z. Josh Huang, Stephen D. Shea (2020). Maternal experience-dependent cortical plasticity in mice Is circuit- and stimulus-specific and requires MECP2.
Journal of Neuroscience, 40(7), 1514-1526. https://doi.org/10.1523/JNEUROSCI.1964-19.2019
Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut
Yang, L., Yildirim, E., Kirby, J., Press, W., & Lee, J.T. (2020). Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut. Proceedings of the National Academy of Sciences, 117(8), 4262-4272. https://doi.org/10.1073/pnas.191720311
Special education supports and services for Rett syndrome: parent perceptions and satisfaction
Larriba-Quest, K., Byiers, B. J., Beisang, A., Merbler, A. M., & Symons, F. J. (2020). Special education supports and services for Rett syndrome: parent perceptions and satisfaction. Intellectual and Developmental Disabilities, 58(1), 49–64. https://doi.org/10.1352/1934-9556-58.1.49
Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice
Ehinger, Y., Bruyère, J., Panayotis, N., Abada, Y.S., Borloz, E., Matagne, V., Scaramuzzino, C., Vitet, H., Delatour, B., Saidi, L., Villard, L., Saudou, F., & Roux J.C. (2020). Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice. EMBO Molecular Medicine, 12(2), e10889. https://doi.org/10.15252/emmm.201910889
Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity
Byiers, B., Merbler, A., Barney, C., Frenn, K., Panoskaltsis-Mortari, A., Ehrhardt, M., Feyma, T., Beisang, A., Symons, F. (2020). Brain, Behavior, & Immunity – Health, 1. https://doi.org/10.1016/j.bbih.2019.100008
2019PUBLICATIONS
2019
PUBLICATIONS
ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome
Kaufmann, W., Sprouse, J., Rebowe, N., Hanania, T., Klamer, D., & Missling, C. (2019). ANAVEX® 2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome. Pharmacology Biochemistry and Behavior, 187, 172796. https://doi.org/10.1016/j.pbb.2019.172796
Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome.
Merbler, A. M., Byiers, B. J., Hoch, J., Dimian, A. C., Barney, C. C., Feyma, T. J., Beisang, A. A., Bartolomucci, A., & Symons, F. J. (2020). Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome. Journal of child neurology, 35(1), 42–48. https://doi.org/10.1177/0883073819875915
Sensory integration and functional reaching in children with Rett syndrome/Rett-related disorders.
Drobnyk, W., Rocco, K., Davidson, S., Bruce, S., Zhang, F., & Soumerai, S.B. (2019). Sensory integration and functional reaching in children with Rett syndrome/Rett-related disorders. Clinical Medicine Insights. Pediatrics, 13, 1179556519871952. https://doi.org/10.1177/1179556519871952
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets
Krishnaraj, R., Haase, F., Coorey, B., Luca, E. J., Wong, I., Boyling, A., Ellaway, C., Christodoulou, J., & Gold, W. A. (2019). Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets. Human Mutation, 40(12), 2184–2196. https://doi.org/10.1002/humu.23887
The role of MeCP2 in learning and memory
Robinson, H. A., & Pozzo-Miller, L. (2019). The role of MeCP2 in learning and memory. Learning & Memory (Cold Spring Harbor, N.Y.), 26(9), 343–350. https://doi.org/10.1101/lm.048876.118
Exosomes regulate neurogenesis and circuit assembly
Sharma, P., Mesci, P., Carromeu, C., McClatchy, D. R., Schiapparelli, L., Yates, J. R., 3rd, Muotri, A. R., & Cline, H. T. (2019). Exosomes regulate neurogenesis and circuit assembly. Proceedings of the National Academy of Sciences of the United States of America, 116(32), 16086–16094. https://doi.org/10.1073/pnas.1902513116
Deep learning of spontaneous arousal fluctuations detects early cholinergic defects across neurodevelopmental mouse models and patients
Artoni, P., Piffer, A., Vinci, V., LeBlanc, J., Nelson, C. A., Hensch, T. K., & Fagiolini, M. (2020). Deep learning of spontaneous arousal fluctuations detects early cholinergic defects across neurodevelopmental mouse models and patients. Proceedings of the National Academy of Sciences of the United States of America, 117(38), 23298–23303. https://doi.org/10.1073/pnas.1820847116
DNA methylation contributes to the differential expression levels of Mecp2 in male mice neurons and astrocytes
Liyanage, V. R. B., Olson, C. O., Zachariah, R. M., Davie, J. R., & Rastegar, M. (2019). DNA methylation contributes to the differential expression levels of Mecp2 in male mice neurons and astrocytes. International Journal of Molecular Sciences, 20(8), 1845. https://doi.org/10.3390/ijms20081845
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2019). Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain : A Journal of Neurology, 142(2), 239–248. https://doi.org/10.1093/brain/awy323
Loss of MeCP2 in immature neurons leads to impaired network integration
Sun, Y., Gao, Y., Tidei, J. J., Shen, M., Hoang, J. T., Wagner, D. F., & Zhao, X. (2019). Loss of MeCP2 in immature neurons leads to impaired network integration. Human Molecular Genetics, 28(2), 245–257. https://doi.org/10.1093/hmg/ddy338
Disturbed redox homeostasis and oxidative stress: potential players in the developmental regression in Rett syndrome
Müller M. (2019). Disturbed redox homeostasis and oxidative stress: potential players in the developmental regression in Rett syndrome. Neuroscience and Biobehavioral Reviews, 98, 154–163. https://doi.org/10.1016/j.neubiorev.2018.12.009
Spoken word processing in Rett syndrome: evidence from event-related potentials
Key, A. P., Jones, D., & Peters, S. (2019). Spoken word processing in Rett syndrome: evidence from event-related potentials. International Journal of Developmental Neuroscience : The Official Journal of the International Society for Developmental Neuroscience, 73, 26–31. https://doi.org/10.1016/j.ijdevneu.2019.01.001
2018PUBLICATIONS
2018
PUBLICATIONS
MECP2 mutation interrupts nucleolin-mTOR-P70S6K signaling in Rett syndrome patients
Olson, C. O., Pejhan, S., Kroft, D., Sheikholeslami, K., Fuss, D., Buist, M., Ali Sher, A., Del Bigio, M. R., Sztainberg, Y., Siu, V. M., Ang, L. C., Sabourin-Felix, M., Moss, T., & Rastegar, M. (2018). MECP2 mutation interrupts nucleolin-mTOR-P70S6K signaling in Rett syndrome patients. Frontiers in Genetics, 9, 635. https://doi.org/10.3389/fgene.2018.00635
Metabotropic glutamate receptor 7: a new therapeutic target in neurodevelopmental disorders
Fisher, N. M., Seto, M., Lindsley, C. W., & Niswender, C. M. (2018). Metabotropic glutamate receptor 7: a new therapeutic target in neurodevelopmental disorders. Frontiers in Molecular Neuroscience, 11, 387. https://doi.org/10.3389/fnmol.2018.00387
Impaired visual search in children with Rett syndrome
Rose, S. A., Wass, S., Jankowski, J. J., Feldman, J. F., & Djukic, A. (2019). Impaired visual search in children with Rett syndrome. Pediatric Neurology, 92, 26–31. https://doi.org/10.1016/j.pediatrneurol.2018.10.002
Loss of Mecp2 causes atypical synaptic and molecular plasticity of parvalbumin-expressing interneurons reflecting Rett syndrome-like sensorimotor defects
Morello, N., Schina, R., Pilotto, F., Phillips, M., Melani, R., Plicato, O., Pizzorusso, T., Pozzo-Miller, L., & Giustetto, M. (2018). Loss of Mecp2 causes atypical synaptic and molecular plasticity of parvalbumin-expressing interneurons reflecting Rett syndrome-like sensorimotor defects. eNeuro, 5(5), ENEURO.0086-18.2018. https://doi.org/10.1523/ENEURO.0086-18.2018
Total RNA sequencing of Rett syndrome autopsy samples identifies the M4 muscarinic receptor as a novel therapeutic target
Gogliotti, R. G., Fisher, N. M., Stansley, B. J., Jones, C. K., Lindsley, C. W., Conn, P. J., & Niswender, C. M. (2018). Total RNA sequencing of Rett syndrome autopsy samples identifies the M4 muscarinic receptor as a novel therapeutic target. The Journal of Pharmacology and Experimental Therapeutics, 365(2), 291–300. https://doi.org/10.1124/jpet.117.246991
Sleep disturbances in Rett syndrome: impact and management including use of sleep hygiene practices
Boban, S., Leonard, H., Wong, K., Wilson, A., & Downs, J. (2018). Sleep disturbances in Rett syndrome: impact and management including use of sleep hygiene practices. American Journal of Medical Genetics. Part A, 176(7), 1569–1577. https://doi.org/10.1002/ajmg.a.38829
The feasibility of using actigraphy to characterize sleep in Rett syndrome
Merbler, A. M., Byiers, B. J., Garcia, J. J., Feyma, T. J., & Symons, F. J. (2018). The feasibility of using actigraphy to characterize sleep in Rett syndrome. Journal of Neurodevelopmental Disorders, 10(1), 8. https://doi.org/10.1186/s11689-018-9227-z
Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
O’Leary, H. M., Kaufmann, W. E., Barnes, K. V., Rakesh, K., Kapur, K., Tarquinio, D. C., Cantwell, N. G., Roche, K. J., Rose, S. A., Walco, A. C., Bruck, N. M., Bazin, G. A., Holm, I. A., Alexander, M. E., Swanson, L. C., Baczewski, L. M., Poon, C., Mayor Torres, J. M., Nelson, C. A., 3rd, & Sahin, M. (2018). Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Annals of Clinical and Translational Neurology, 5(3), 323–332. https://doi.org/10.1002/acn3.533
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial
Downs, J., Rodger, J., Li, C., Tan, X., Hu, N., Wong, K., de Klerk, N., & Leonard, H. (2018). Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. Orphanet Journal of Rare Diseases, 13(1), 3. https://doi.org/10.1186/s13023-017-0752-8
2017PUBLICATIONS
2017
PUBLICATIONS
Adapting the mullen scales of early learning for a standardized measure of development in children with Rett syndrome
Clarkson, T., LeBlanc, J., DeGregorio, G., Vogel-Farley, V., Barnes, K., Kaufmann, W. E., & Nelson, C. A. (2017). Adapting the mullen scales of early learning for a standardized measure of development in children with Rett syndrome. Intellectual and Developmental Disabilities, 55(6), 419–431. https://doi.org/10.1352/1934-9556-55.6.419
Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing
Peters, S. U., Katzenstein, A., Jones, D., & Key, A. P. (2017). Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing. Brain Research, 1675, 71–77. https://doi.org/10.1016/j.brainres.2017.08.028
Genetic reduction or negative modulation of mGlu7 does not impact anxiety and fear learning phenotypes in a mouse model of MECP2 duplication syndrome
Fisher, N. M., Gogliotti, R. G., Vermudez, S. A. D., Stansley, B. J., Conn, P. J., & Niswender, C. M. (2018). Genetic reduction or negative modulation of mGlu7 does not impact anxiety and fear learning phenotypes in a mouse model of MECP2 duplication syndrome. ACS Chemical Neuroscience, 9(9), 2210–2217. https://doi.org/10.1021/acschemneuro.7b00414
Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome
Johnson, B. S., Zhao, Y. T., Fasolino, M., Lamonica, J. M., Kim, Y. J., Georgakilas, G., Wood, K. H., Bu, D., Cui, Y., Goffin, D., Vahedi, G., Kim, T. H., & Zhou, Z. (2017). Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome. Nature Medicine, 23(10), 1203–1214. https://doi.org/10.1038/nm.4406
mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome
Gogliotti, R. G., Senter, R. K., Fisher, N. M., Adams, J., Zamorano, R., Walker, A. G., Blobaum, A. L., Engers, D. W., Hopkins, C. R., Daniels, J. S., Jones, C. K., Lindsley, C. W., Xiang, Z., Conn, P. J., & Niswender, C. M. (2017). mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome. Science Translational Medicine, 9(403), eaai7459. https://doi.org/10.1126/scitranslmed.aai7459
EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rett syndrome mice
Xu, X., & Pozzo-Miller, L. (2017). EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rett syndrome mice. The Journal of Physiology, 595(16), 5699–5712. https://doi.org/10.1113/JP274450
A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of Rett syndrome
Glaze, D. G., Neul, J. L., Percy, A., Feyma, T., Beisang, A., Yaroshinsky, A., Stoms, G., Zuchero, D., Horrigan, J., Glass, L., & Jones, N. E. (2017). A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of Rett syndrome. Pediatric Neurology, 76, 37–46. https://doi.org/10.1016/j.pediatrneurol.2017.07.002
Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders
Engineer, C.T., Hays, S.A. & Kilgard, M.P. (2017). Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders. Journal of Neurodevelopmental Disorders, 9, 20. https://doi.org/10.1186/s11689-017-9203-z
A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice
Li, W., Bellot-Saez, A., Phillips, M. L., Yang, T., Longo, F. M., & Pozzo-Miller, L. (2017). A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice. Disease Models & Mechanisms, 10(7), 837–845. https://doi.org/10.1242/dmm.029959
Defining hand stereotypies in Rett syndrome: A movement disorders perspective
Dy, M. E., Waugh, J. L., Sharma, N., O’Leary, H., Kapur, K., D’Gama, A. M., Sahin, M., Urion, D. K., & Kaufmann, W. E. (2017). Defining hand stereotypies in Rett syndrome: A movement disorders perspective. Pediatric Neurology, 75, 91–95. https://doi.org/10.1016/j.pediatrneurol.2017.05.025
Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome
Downs, J., Leonard, H., Wong, K., Newton, N., & Hill, K. (2017). Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome. Developmental Medicine and Child Neurology, 59(6), 605–611. https://doi.org/10.1111/dmcn.13398
Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome
Shapiro, J. R., Boskey, A. L., Doty, S. B., Lukashova, L., & Blue, M. E. (2017). Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome. Bone, 99, 1–7. https://doi.org/10.1016/j.bone.2017.03.040
RettBASE: Rett syndrome database update
Krishnaraj, R., Ho, G., & Christodoulou, J. (2017). RettBASE: Rett syndrome database update. Human Mutation, 38(8), 922–931. https://doi.org/10.1002/humu.23263
Scoliosis in Rett syndrome: progression, comorbidities, and predictors
Killian, J. T., Lane, J. B., Lee, H. S., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2017). Scoliosis in Rett syndrome: progression, comorbidities, and predictors. Pediatric Neurology, 70, 20–25. https://doi.org/10.1016/j.pediatrneurol.2017.01.032
Sustained attention in the face of distractors: a study of children with Rett syndrome
Rose, S. A., Wass, S., Jankowski, J. J., Feldman, J. F., & Djukic, A. (2017). Sustained attention in the face of distractors: a study of children with Rett syndrome. Neuropsychology, 31(4), 403–410. https://doi.org/10.1037/neu0000369
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study
Mackay, J., Downs, J., Wong, K., Heyworth, J., Epstein, A., & Leonard, H. (2017). Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. Journal of Neurodevelopmental Disorders, 9, 15. https://doi.org/10.1186/s11689-017-9196-7
Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes
Lamonica, J. M., Kwon, D. Y., Goffin, D., Fenik, P., Johnson, B. S., Cui, Y., Guo, H., Veasey, S., & Zhou, Z. (2017). Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. The Journal of Clinical Investigation, 127(5), 1889–1904. https://doi.org/10.1172/JCI90967
Influenza A induces dysfunctional immunity and death in MeCP2-overexpressing mice
Cronk, J. C., Herz, J., Kim, T. S., Louveau, A., Moser, E. K., Sharma, A. K., Smirnov, I., Tung, K. S., Braciale, T. J., & Kipnis, J. (2017). Influenza A induces dysfunctional immunity and death in MeCP2-overexpressing mice. JCI Insight, 2(2), e88257. https://doi.org/10.1172/jci.insight.88257
MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice
Krishnan, K., Lau, B. Y., Ewall, G., Huang, Z. J., & Shea, S. D. (2017). MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice. Nature Communications, 8, 14077. https://doi.org/10.1038/ncomms14077
NIH-Funded Natural History Study
Data from the Rett Syndrome Natural History Study (NHS) contributed directly to these publications. This exclusive database continues to be an invaluable resource for researchers.
2023PUBLICATIONS
2023
PUBLICATIONS
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Neul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Silveira, L., Fu, C., Peters, S. U., Percy, A. K., & Rett syndrome Natural History Study Group (2023). Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. Journal of Neurodevelopmental Disorders, 15(1), 33. https://doi.org/10.1186/s11689-023-09502-z
2022PUBLICATIONS
2022
PUBLICATIONS
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Buchanan, C.B., Stallworth, J.L., Joy, A.E. et al. (2022). Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. Journal of Neurodevelopmental Disorders, 14(31). https://doi.org/10.1186/s11689-022-09432-2
Anthropometric measures correspond with functional motor outcomes infemales with Rett syndrome
Motil, K. J., Geerts, S., Annese, F., Neul, J. L., Benke, T., Marsh, E., Lieberman, D., Skinner, S. A., Glaze, D. G., Heydemann, P., Beisang, A., Standridge, S., Ryther, R., Lane, J. B., Edwards, L., & Percy, A. K. (2022). Anthropometric measures correspond with functional motor outcomes infemales with Rett syndrome. The Journal of Pediatrics, 244, 169–177. https://doi.org/10.1016/j.jpeds.2022.01.009
2021PUBLICATIONS
2021
PUBLICATIONS
Multisite study of evoked potentials in Rett syndrome
Saby, J. N., Benke, T. A., Peters, S. U., Standridge, S. M., Matsuzaki, J., Cutri-French, C., Swanson, L. C., Lieberman, D. N., Key, A. P., Percy, A. K., Neul, J. L., Nelson, C. A., Roberts, T. P. L., & Marsh, E. D. (2021). Multisite study of evoked potentials in Rett syndrome. Annals of Neurology, 89(4), 790–802. https://doi.org/10.1002/ana.26029
2020PUBLICATIONS
2020
PUBLICATIONS
Phenotypic features in MECP2 duplication syndrome: Effects of age
Peters, S. U., Fu, C., Marsh, E. D., Benke, T. A., Suter, B., Skinner, S. A., Lieberman, D. N., Standridge, S., Jones, M., Beisang, A., Feyma, T., Heydeman, P., Ryther, R., Glaze, D. G., Percy, A. K., & Neul, J. L. (2021). Phenotypic features in MECP2 duplication syndrome: Effects of age. American Journal of Medical Genetics. Part A, 185(2), 362–369. https://doi.org/10.1002/ajmg.a.61956
A psychometric evaluation of the motor-behavioral assessment scale for use as an outcome Measure in Rett syndrome clinical trials
Raspa, M., Bann, C.M., Gwaltney, A., Benke, T.A., Fu, C., Glaze, D.G., Haas, R., Heydemann, P., Jones, M., Kaufmann, W.E., Lieberman, D., Marsh, E., Peters, S., Ryther, R., Standridge, S., Skinner, S.A., Percy, A.K., Neul, J.L.. (2020). American Journal on Intellectual and Developmental Disabilities, 125(6), 493-509. https://doi.org/10.1352/1944-7558-125.6.493
Multisystem comorbidities in classic Rett syndrome: a scoping review
Fu, C., Armstrong, D., Marsh, E., Lieberman, D., Motil, K., Witt, R., Standridge, S., Lane, J., Dinkel, T., Jones, M., Hale, K., Suter, B., Glaze, D., Neul, J., Percy, A., & Benke, T. (2020). Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatrics Open, 4(1), e000731. https://doi.org/10.1136/bmjpo-2020-000731
Consensus guidelines on managing Rett syndrome across the lifespan
Fu, C., Armstrong, D., Marsh, E., Lieberman, D., Motil, K., Witt, R., Standridge, S., Nues, P., Lane, J., Dinkel, T., Coenraads, M., von Hehn, J., Jones, M., Hale, K., Suter, B., Glaze, D., Neul, J., Percy, A., & Benke, T. (2020). Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatrics Open, 4(1), e000717. https://doi.org/10.1136/bmjpo-2020-000717
Cortisol profiles and clinical severity in MECP2 duplication syndrome
Peters, S. U., Fu, C., Neul, J. L., & Granger, D. A. (2020). Cortisol profiles and clinical severity in MECP2 duplication syndrome. Journal of Neurodevelopmental Disorders, 12(1), 19. https://doi.org/10.1186/s11689-020-09322-5
Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study
Cutri-French, C., Armstrong, D., Saby, J., Gorman, C., Lane, J., Fu, C., Peters, S. U., Percy, A., Neul, J. L., & Marsh, E. D. (2020). Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study. Annals of Neurology, 88(2), 396–406. https://doi.org/10.1002/ana.25797
Metabolic signatures differentiate Rett syndrome from unaffected siblings
Neul, J.L., Skinner, S.A., Annese, F., Lane, J., Heydemann, P., Jones, M., Kaufmann, W.E., Glaze, D.G., Percy, A.K. (2020) Metabolic signatures differentiate Rett syndrome from unaffected siblings. Frontiers in Integrative Neuroscience, 14(7). https://doi.org/10.3389/fnint.2020.00007
2019PUBLICATIONS
2019
PUBLICATIONS
Biliary tract disease in girls and young women with Rett syndrome
Motil, K. J., Lane, J. B., Barrish, J. O., Annese, F., Geerts, S., McNair, L., Skinner, S. A., Neul, J. L., Glaze, D. G., & Percy, A. K. (2019). Biliary tract disease in girls and young women with Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition, 68(6), 799–805. https://doi.org/10.1097/MPG.0000000000002273
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study
Stallworth, J. L., Dy, M. E., Buchanan, C. B., Chen, C. F., Scott, A. E., Glaze, D. G., Lane, J. B., Lieberman, D. N., Oberman, L. M., Skinner, S. A., Tierney, A. E., Cutter, G. R., Percy, A. K., Neul, J. L., & Kaufmann, W. E. (2019). Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. Neurology, 92(22), e2594–e2603. https://doi.org/10.1212/WNL.0000000000007560
Severity assessment in CDKL5 deficiency disorder
Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O., Benke, T. A. (2019). Severity assessment in CDKL5 deficiency disorder. Pediatric Neurology, 97, 38–42. https://doi.org/10.1016/j.pediatrneurol.2019.03.017
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
Peters, S. U., Fu, C., Suter, B., Marsh, E., Benke, T. A., Skinner, S. A., Lieberman, D. N., Standridge, S., Jones, M., Beisang, A., Feyma, T., Heydeman, P., Ryther, R., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2019). Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome. Clinical Genetics, 95(5), 575–581. https://doi.org/10.1111/cge.13521
2018PUBLICATIONS
2018
PUBLICATIONS
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2
Neul, J. L., Benke, T. A., Marsh, E. D., Skinner, S. A., Merritt, J., Lieberman, D. N., Standridge, S., Feyma, T., Heydemann, P., Peters, S., Ryther, R., Jones, M., Suter, B., Kaufmann, W. E., Glaze, D. G., & Percy, A. K. (2019). The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 180(1), 55–67. https://doi.org/10.1002/ajmg.b.32707
Behavioral profiles in Rett syndrome: Data from the Natural History Study
Buchanan, C. B., Stallworth, J. L., Scott, A. E., Glaze, D. G., Lane, J. B., Skinner, S. A., Tierney, A. E., Percy, A. K., Neul, J. L., & Kaufmann, W. E. (2019). Behavioral profiles in Rett syndrome: Data from the natural history study. Brain & Development, 41(2), 123–134. https://doi.org/10.1016/j.braindev.2018.08.008
The course of awake breathing disturbances across the lifespan in Rett syndrome
Tarquinio, D. C., Hou, W., Neul, J. L., Berkmen, G. K., Drummond, J., Aronoff, E., Harris, J., Lane, J. B., Kaufmann, W. E., Motil, K. J., Glaze, D. G., Skinner, S. A., & Percy, A. K. (2018). The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain & Development, 40(7), 515–529. https://doi.org/10.1016/j.braindev.2018.03.010
When Rett syndrome is due to genes other than MECP2
Percy, A. K., Lane, J., Annese, F., Warren, H., Skinner, S. A., & Neul, J. L. (2018). When Rett syndrome is due to genes other than MECP2. Translational Science of Rare Diseases, 3(1), 49–53. https://doi.org/10.3233/TRD-180021
2017PUBLICATIONS
2017
PUBLICATIONS
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors
Killian, J. T., Lane, J. B., Lee, H. S., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2017). Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatric Neurology, 70, 20–25. https://doi.org/10.1016/j.pediatrneurol.2017.01.032
Assessment of caregiver inventory for Rett syndrome
Lane, J. B., Salter, A. R., Jones, N. E., Cutter, G., Horrigan, J., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2017). Assessment of caregiver inventory for Rett syndrome. Journal of Autism and Developmental Disorders, 47(4), 1102–1112. https://doi.org/10.1007/s10803-017-3034-3
2016PUBLICATIONS
2016
PUBLICATIONS
Longitudinal course of epilepsy in Rett syndrome and related disorders
Tarquinio, D. C., Hou, W., Berg, A., Kaufmann, W. E., Lane, J. B., Skinner, S. A., Motil, K. J., Neul, J. L., Percy, A. K., & Glaze, D. G. (2017). Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain : A Journal of Neurology, 140(2), 306–318. https://doi.org/10.1093/brain/aww302
From function to phenotype: impaired DNA binding and clustering correlates with clinical severity in males with missense mutations in MECP2
Sheikh, T. I., Ausió, J., Faghfoury, H., Silver, J., Lane, J. B., Eubanks, J. H., MacLeod, P., Percy, A. K., & Vincent, J. B. (2016). From function to phenotype: impaired DNA binding and clustering correlates with clinical severity in males with missense mutations in MECP2. Scientific Reports, 6, 38590. https://doi.org/10.1038/srep38590
Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of Rett syndrome
Ward, C. S., Huang, T. W., Herrera, J. A., Samaco, R. C., Pitcher, M. R., Herron, A., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Percy, A. K., & Neul, J. L. (2016). Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of Rett syndrome. PloS One, 11(11), e0165550. https://doi.org/10.1371/journal.pone.0165550
Progress in Rett syndrome: from discovery to clinical trials
Percy A. K. (2016). Progress in Rett Syndrome: from discovery to clinical trials. Fortschritte beim Rett-Syndrom – von der Entdeckung zu klinischen Studien. Wiener medizinische Wochenschrift (1946), 166(11-12), 325–332. https://doi.org/10.1007/s10354-016-0491-9
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
Sajan, S. A., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Lupski, J. R., Glaze, D. G., Kaufmann, W. E., Skinner, S. A., Annese, F., Friez, M. J., Lane, J., Percy, A. K., & Neul, J. L. (2017). Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 19(1), 13–19. https://doi.org/10.1038/gim.2016.42
Caretaker quality of life in Rett syndrome: disorder features and psychological predictors
Killian, J. T., Jr, Lane, J. B., Lee, H. S., Pelham, J. H., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Neul, J. L., & Percy, A. K. (2016). Caretaker quality of life in Rett syndrome: disorder features and psychological predictors. Pediatric Neurology, 58, 67–74. https://doi.org/10.1016/j.pediatrneurol.2015.12.021
2015PUBLICATIONS
2015
PUBLICATIONS
Detecting autonomic response to pain in Rett syndrome
O’Leary, H. M., Marschik, P. B., Khwaja, O. S., Ho, E., Barnes, K. V., Clarkson, T. W., Bruck, N. M., & Kaufmann, W. E. (2017). Detecting autonomic response to pain in Rett syndrome. Developmental Neurorehabilitation, 20(2), 108–114. https://doi.org/10.3109/17518423.2015.1087437
The changing face of survival in Rett syndrome and MECP2-related disorders
Tarquinio, D. C., Hou, W., Neul, J. L., Kaufmann, W. E., Glaze, D. G., Motil, K. J., Skinner, S. A., Lee, H. S., & Percy, A. K. (2015). The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatric Neurology, 53(5), 402–411. https://doi.org/10.1016/j.pediatrneurol.2015.06.003
Improving treatment trial outcomes for Rett syndrome: The development of Rett-specific anchors for the Clinical Global Impression Scale
Neul, J. L., Glaze, D. G., Percy, A. K., Feyma, T., Beisang, A., Dinh, T., Suter, B., Anagnostou, E., Snape, M., Horrigan, J., & Jones, N. E. (2015). Improving treatment trial outcomes for Rett syndrome: The development of Rett-specific anchors for the Clinical Global Impression Scale. Journal of Child Neurology, 30(13), 1743–1748. https://doi.org/10.1177/0883073815579707
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs
Herrera, J. A., Ward, C. S., Pitcher, M. R., Percy, A. K., Skinner, S., Kaufmann, W. E., Glaze, D. G., Wehrens, X. H., & Neul, J. L. (2015). Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Disease Models & Mechanisms, 8(4), 363–371. https://doi.org/10.1242/dmm.020131
Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis
Tarquinio, D. C., Hou, W., Neul, J. L., Lane, J. B., Barnes, K. V., O’Leary, H. M., Bruck, N. M., Kaufmann, W. E., Motil, K. J., Glaze, D. G., Skinner, S. A., Annese, F., Baggett, L., Barrish, J. O., Geerts, S. P., & Percy, A. K. (2015). Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatric Neurology, 52(6), 585–91.e2. https://doi.org/10.1016/j.pediatrneurol.2015.02.007
2014PUBLICATIONS
2014
PUBLICATIONS
Pubertal development in Rett syndrome deviates from typical females
Killian, J. T., Lane, J. B., Cutter, G. R., Skinner, S. A., Kaufmann, W. E., Tarquinio, D. C., Glaze, D. G., Motil, K. J., Neul, J. L., & Percy, A. K. (2014). Pubertal development in Rett syndrome deviates from typical females. Pediatric Neurology, 51(6), 769–775. https://doi.org/10.1016/j.pediatrneurol.2014.08.013
Developmental delay in Rett syndrome: data from the natural history study
Neul, J. L., Lane, J. B., Lee, H. S., Geerts, S., Barrish, J. O., Annese, F., Baggett, L. M., Barnes, K., Skinner, S. A., Motil, K. J., Glaze, D. G., Kaufmann, W. E., & Percy, A. K. (2014). Developmental delay in Rett syndrome: data from the natural history study. Journal of Neurodevelopmental Disorders, 6(1), 20. https://doi.org/10.1186/1866-1955-6-20
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-Related Disorders) genetic testing
Kalman, L. V., Tarleton, J. C., Percy, A. K., Aradhya, S., Bale, S., Barker, S. D., Bayrak-Toydemir, P., Bridges, C., Buller-Burckle, A. M., Das, S., Iyer, R. K., Vo, T. D., Zvereff, V. V., & Toji, L. H. (2014). Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. The Journal of Molecular Diagnostics: JMD, 16(2), 273–279. https://doi.org/10.1016/j.jmoldx.2013.11.004
Rett syndrome: from recognition to diagnosis to intervention
Percy A. K. (2008). Rett syndrome: from recognition to diagnosis to intervention. Expert Review of Endocrinology & Metabolism, 3(3), 327–336. https://doi.org/10.1586/17446651.3.3.327
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., Percy, A. K., Neul, J. L., & Olsen, M. L. (2014). Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of Medical Genetics, 51(3), 152–158. https://doi.org/10.1136/jmedgenet-2013-102113
2013PUBLICATIONS
2013
PUBLICATIONS
The American history of Rett syndrome
Percy A. (2014). The American history of Rett syndrome. Pediatric Neurology, 50(1), 1–3. https://doi.org/10.1016/j.pediatrneurol.2013.08.018
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome
Chapleau, C. A., Lane, J., Kirwin, S. M., Schanen, C., Vinette, K. M., Stubbolo, D., MacLeod, P., Glaze, D. G., Motil, K. J., Neul, J. L., Skinner, S. A., Kaufmann, W. E., & Percy, A. K. (2013). Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. American Journal of Medical Genetics. Part A, 161A(7), 1638–1646. https://doi.org/10.1002/ajmg.a.35979
2012PUBLICATIONS
2012
PUBLICATIONS
Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
Motil, K. J., Caeg, E., Barrish, J. O., Geerts, S., Lane, J. B., Percy, A. K., Annese, F., McNair, L., Skinner, S. A., Lee, H. S., Neul, J. L., & Glaze, D. G. (2012). Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. Journal of Pediatric Gastroenterology and nutrition, 55(3), 292–298. https://doi.org/10.1097/MPG.0b013e31824b6159
Growth failure and outcome in Rett syndrome: specific growth references
Tarquinio, D. C., Motil, K. J., Hou, W., Lee, H. S., Glaze, D. G., Skinner, S. A., Neul, J. L., Annese, F., McNair, L., Barrish, J. O., Geerts, S. P., Lane, J. B., & Percy, A. K. (2012). Growth failure and outcome in Rett syndrome: specific growth references. Neurology, 79(16), 1653–1661. https://doi.org/10.1212/WNL.0b013e31826e9a70
2011PUBLICATIONS
2011
PUBLICATIONS
Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome
McCauley, M. D., Wang, T., Mike, E., Herrera, J., Beavers, D. L., Huang, T. W., Ward, C. S., Skinner, S., Percy, A. K., Glaze, D. G., Wehrens, X. H., & Neul, J. L. (2011). Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. Science Translational Medicine, 3(113), 113ra125. https://doi.org/10.1126/scitranslmed.3002982
Vitamin D deficiency is prevalent in girls and women with Rett syndrome
Motil, K. J., Barrish, J. O., Lane, J., Geerts, S. P., Annese, F., McNair, L., Percy, A. K., Skinner, S. A., Neul, J. L., & Glaze, D. G. (2011). Vitamin D deficiency is prevalent in girls and women with Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition, 53(5), 569–574. https://doi.org/10.1097/MPG.0b013e3182267a66
Clinical severity and quality of life in children and adolescents with Rett syndrome
Lane, J. B., Lee, H. S., Smith, L. W., Cheng, P., Percy, A. K., Glaze, D. G., Neul, J. L., Motil, K. J., Barrish, J. O., Skinner, S. A., Annese, F., McNair, L., Graham, J., Khwaja, O., Barnes, K., & Krischer, J. P. (2011). Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology, 77(20), 1812–1818. https://doi.org/10.1212/WNL.0b013e3182377dd2
Rett syndrome: exploring the autism link
Percy A. K. (2011). Rett syndrome: exploring the autism link. Archives of Neurology, 68(8), 985–989. https://doi.org/10.1001/archneurol.2011.149
Complexities of Rett syndrome and MeCP2
Samaco, R. C., & Neul, J. L. (2011). Complexities of Rett syndrome and MeCP2. The Journal of Neuroscience : The Official Journal of the Society for Neuroscience, 31(22), 7951–7959. https://doi.org/10.1523/JNEUROSCI.0169-11.2011
2010PUBLICATIONS
2010
PUBLICATIONS
Rett syndrome: revised diagnostic criteria and nomenclature
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., Leonard, H., Bailey, M. E., Schanen, N. C., Zappella, M., Renieri, A., Huppke, P., Percy, A. K., & RettSearch Consortium (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944–950. https://doi.org/10.1002/ana.22124
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Percy, A. K., Neul, J. L., Glaze, D. G., Motil, K. J., Skinner, S. A., Khwaja, O., Lee, H. S., Lane, J. B., Barrish, J. O., Annese, F., McNair, L., Graham, J., & Barnes, K. (2010). Rett syndrome diagnostic criteria: lessons from the Natural History Study. Annals of Neurology, 68(6), 951–955. https://doi.org/10.1002/ana.22154
Profiling scoliosis in Rett syndrome
Percy, A. K., Lee, H. S., Neul, J. L., Lane, J. B., Skinner, S. A., Geerts, S. P., Annese, F., Graham, J., McNair, L., Motil, K. J., Barrish, J. O., & Glaze, D. G. (2010). Profiling scoliosis in Rett syndrome. Pediatric Research, 67(4), 435–439. https://doi.org/10.1203/PDR.0b013e3181d0187f
Epilepsy and the natural history of Rett syndrome
Glaze, D. G., Percy, A. K., Skinner, S., Motil, K. J., Neul, J. L., Barrish, J. O., Lane, J. B., Geerts, S. P., Annese, F., Graham, J., McNair, L., & Lee, H. S. (2010). Epilepsy and the natural history of Rett syndrome. Neurology, 74(11), 909–912. https://doi.org/10.1212/WNL.0b013e3181d6b852
2009PUBLICATIONS
2009
PUBLICATIONS
Longevity in Rett syndrome: analysis of the North American Database
Kirby, R. S., Lane, J. B., Childers, J., Skinner, S. A., Annese, F., Barrish, J. O., Glaze, D. G., Macleod, P., & Percy, A. K. (2010). Longevity in Rett syndrome: analysis of the North American Database. The Journal of Pediatrics, 156(1), 135–138.e1. https://doi.org/10.1016/j.jpeds.2009.07.015
Gastrostomy placement improves height and weight gain in girls with Rett syndrome
Motil, K. J., Morrissey, M., Caeg, E., Barrish, J. O., & Glaze, D. G. (2009). Gastrostomy placement improves height and weight gain in girls with Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition, 49(2), 237–242. https://doi.org/10.1097/MPG.0b013e31818f61fd
2008PUBLICATIONS
2008
PUBLICATIONS
2007PUBLICATIONS
2007
PUBLICATIONS
Rett syndrome: North American database
Percy, A. K., Lane, J. B., Childers, J., Skinner, S., Annese, F., Barrish, J., Caeg, E., Glaze, D. G., & MacLeod, P. (2007). Rett syndrome: North American database. Journal of Child Neurology, 22(12), 1338–1341. https://doi.org/10.1177/0883073807308715
Subscribe
IRSF Research Quarterly Newsletter
Check out past editions of the IRSF Research Newsletter containing Rett research news, important announcements, new publications, and more.
Previous Editions
Click below to download the newsletter.
Find Funding Opportunities with IRSF
IRSF supports the brightest ideas in Rett research and innovation. Stay up to date about current funding opportunities.