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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders

Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL.
PMID: 34740315
J Neurodev Disord. 2021 Nov 05;13(1):53. doi: 10.1186/s11689-021-09398-7.

BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of...

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Srivastava S, Condy E, Carmody E, et al. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021;13(1):53doi: 10.1186/s11689-021-09398-7.
Srivastava, S., Condy, E., Carmody, E., Filip-Dhima, R., Kapur, K., Bernstein, J. A., Berry-Kravis, E., Powell, C. M., Soorya, L., Thurm, A., Buxbaum, J. D., Sahin, M., Kolevzon, A. L. (2021). Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. Journal of neurodevelopmental disorders, 13(1), 53. https://doi.org/10.1186/s11689-021-09398-7
Srivastava, Siddharth, et al. "Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome." Journal of neurodevelopmental disorders vol. 13,1 (2021): 53. doi: https://doi.org/10.1186/s11689-021-09398-7
Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 Nov 05;13(1):53. doi: 10.1186/s11689-021-09398-7. PMID: 34740315; PMCID: PMC8570010.
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.

Molecular autism

Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, Zhang B, Sahin M, Levin AR.
PMID: 33910615
Mol Autism. 2021 Apr 28;12(1):29. doi: 10.1186/s13229-020-00411-9.

BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into...

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Mariscal MG, Berry-Kravis E, Buxbaum JD, et al. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021;12(1):29doi: 10.1186/s13229-020-00411-9.
Mariscal, M. G., Berry-Kravis, E., Buxbaum, J. D., Ethridge, L. E., Filip-Dhima, R., Foss-Feig, J. H., Kolevzon, A., Modi, M. E., Mosconi, M. W., Nelson, C. A., Powell, C. M., Siper, P. M., Soorya, L., Thaliath, A., Thurm, A., Zhang, B., Sahin, M., Levin, A. R. (2021). Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Molecular autism, 12(1), 29. https://doi.org/10.1186/s13229-020-00411-9
Mariscal, Michael G, et al. "Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome." Molecular autism vol. 12,1 (2021): 29. doi: https://doi.org/10.1186/s13229-020-00411-9
Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, Zhang B, Sahin M, Levin AR. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 Apr 28;12(1):29. doi: 10.1186/s13229-020-00411-9. PMID: 33910615; PMCID: PMC8082621.
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A randomized double-blind controlled trial of everolimus in individuals with .

Contemporary clinical trials communications

Hardan AY, Jo B, Frazier TW, Klaas P, Busch RM, Dies KA, Filip-Dhima R, Snow AV, Eng C, Hanna R, Zhang B, Sahin M.
PMID: 33644493
Contemp Clin Trials Commun. 2021 Feb 06;21:100733. doi: 10.1016/j.conctc.2021.100733. eCollection 2021 Mar.

This randomized, double-blind controlled trial of everolimus in individuals with germline phosphatase and tensin homolog mutations (

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Hardan AY, Jo B, Frazier TW, et al. A randomized double-blind controlled trial of everolimus in individuals with . Contemp Clin Trials Commun. 2021;21:100733doi: 10.1016/j.conctc.2021.100733.
Hardan, A. Y., Jo, B., Frazier, T. W., Klaas, P., Busch, R. M., Dies, K. A., Filip-Dhima, R., Snow, A. V., Eng, C., Hanna, R., Zhang, B., & Sahin, M. (2021). A randomized double-blind controlled trial of everolimus in individuals with . Contemporary clinical trials communications, 21100733. https://doi.org/10.1016/j.conctc.2021.100733
Hardan, Antonio Y, et al. "A randomized double-blind controlled trial of everolimus in individuals with ." Contemporary clinical trials communications vol. 21 (2021): 100733. doi: https://doi.org/10.1016/j.conctc.2021.100733
Hardan AY, Jo B, Frazier TW, Klaas P, Busch RM, Dies KA, Filip-Dhima R, Snow AV, Eng C, Hanna R, Zhang B, Sahin M. A randomized double-blind controlled trial of everolimus in individuals with . Contemp Clin Trials Commun. 2021 Feb 06;21:100733. doi: 10.1016/j.conctc.2021.100733. eCollection 2021 Mar. PMID: 33644493; PMCID: PMC7887633.
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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study.

Frontiers in integrative neuroscience

Prohl AK, Scherrer B, Tomas-Fernandez X, Filip-Dhima R, Kapur K, Velasco-Annis C, Clancy S, Carmody E, Dean M, Valle M, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK.
PMID: 31417372
Front Integr Neurosci. 2019 Jul 17;13:24. doi: 10.3389/fnint.2019.00024. eCollection 2019.

BACKGROUND: Multi-site MRI studies are often necessary for recruiting sufficiently sized samples when studying rare conditions. However, they require pooling data from multiple scanners into a single data set, and therefore it is critical to evaluate the variability of...

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Prohl AK, Scherrer B, Tomas-Fernandez X, et al. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Front Integr Neurosci. 2019;13:24doi: 10.3389/fnint.2019.00024.
Prohl, A. K., Scherrer, B., Tomas-Fernandez, X., Filip-Dhima, R., Kapur, K., Velasco-Annis, C., Clancy, S., Carmody, E., Dean, M., Valle, M., Prabhu, S. P., Peters, J. M., Bebin, E. M., Krueger, D. A., Northrup, H., Wu, J. Y., Sahin, M., & Warfield, S. K. (2019). Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Frontiers in integrative neuroscience, 1324. https://doi.org/10.3389/fnint.2019.00024
Prohl, Anna K, et al. "Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study." Frontiers in integrative neuroscience vol. 13 (2019): 24. doi: https://doi.org/10.3389/fnint.2019.00024
Prohl AK, Scherrer B, Tomas-Fernandez X, Filip-Dhima R, Kapur K, Velasco-Annis C, Clancy S, Carmody E, Dean M, Valle M, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Front Integr Neurosci. 2019 Jul 17;13:24. doi: 10.3389/fnint.2019.00024. eCollection 2019. PMID: 31417372; PMCID: PMC6650594.
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Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders.

Annals of clinical and translational neurology

Krueger DA, Sadhwani A, Byars AW, de Vries PJ, Franz DN, Whittemore VH, Filip-Dhima R, Murray D, Kapur K, Sahin M.
PMID: 29296616
Ann Clin Transl Neurol. 2017 Nov 12;4(12):877-887. doi: 10.1002/acn3.494. eCollection 2017 Dec.

OBJECTIVE: To evaluate if short-term treatment with everolimus was safe and could improve neurocognition and behavior in children with TSC.METHODS: This was a prospective, double-blind randomized, placebo-controlled two-center phase II study. Participants diagnosed with TSC and age 6-21 years...

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Krueger DA, Sadhwani A, Byars AW, et al. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann Clin Transl Neurol. 2017;4(12):877-887doi: 10.1002/acn3.494.
Krueger, D. A., Sadhwani, A., Byars, A. W., de Vries, P. J., Franz, D. N., Whittemore, V. H., Filip-Dhima, R., Murray, D., Kapur, K., & Sahin, M. (2017). Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Annals of clinical and translational neurology, 4(12), 877-887. https://doi.org/10.1002/acn3.494
Krueger, Darcy A, et al. "Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders." Annals of clinical and translational neurology vol. 4,12 (2017): 877-887. doi: https://doi.org/10.1002/acn3.494
Krueger DA, Sadhwani A, Byars AW, de Vries PJ, Franz DN, Whittemore VH, Filip-Dhima R, Murray D, Kapur K, Sahin M. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann Clin Transl Neurol. 2017 Nov 12;4(12):877-887. doi: 10.1002/acn3.494. eCollection 2017 Dec. PMID: 29296616; PMCID: PMC5740257.
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Showing 1 to 5 of 5 entries