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Page 1
Neuropathological Effects of Chemotherapeutic Drugs.
Umfress A, Speed HE, Tan C, Ramezani S, Birnbaum S, Brekken RA, Sun X, Plattner F, Powell CM, Bibb JA. Umfress A, et al. ACS Chem Neurosci. 2021 Aug 18;12(16):3038-3048. doi: 10.1021/acschemneuro.1c00338. Epub 2021 Aug 9. ACS Chem Neurosci. 2021. PMID: 34370453 Free PMC article.
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
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; Developmental Synaptopathies Consortium. Srivastava S, et al. J Neurodev Disord. 2021 Nov 5;13(1):53. doi: 10.1186/s11689-021-09398-7. J Neurodev Disord. 2021. PMID: 34740315 Free PMC article.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A; Developmental Synaptopathies Consortium. Levy T, et al. Hum Mol Genet. 2022 Feb 21;31(4):625-637. doi: 10.1093/hmg/ddab280. Hum Mol Genet. 2022. PMID: 34559195 Free PMC article.
Phelan-McDermid syndrome: a classification system after 30 years of experience.
Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE Jr, Winrow CJ, Garrison SR, Toro R, Bourgeron T. Phelan K, et al. Orphanet J Rare Dis. 2022 Jan 29;17(1):27. doi: 10.1186/s13023-022-02180-5. Orphanet J Rare Dis. 2022. PMID: 35093143 Free PMC article.
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
Gergoudis K, Weinberg A, Templin J, Farmer C, Durkin A, Weissman J, Siper P, Foss-Feig J, Del Pilar Trelles M, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Sahin M, Soorya L, Thurm A, Kolevzon A; Developmental Synaptopathies Consortium. Gergoudis K, et al. Autism Res. 2020 Aug;13(8):1383-1396. doi: 10.1002/aur.2299. Epub 2020 May 14. Autism Res. 2020. PMID: 32406614 Free PMC article.
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Srivastava S, et al. Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21. Pediatr Neurol. 2019. PMID: 30396833 Free PMC article.
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Bassell J, et al. Pediatr Neurol. 2020 May;106:24-31. doi: 10.1016/j.pediatrneurol.2020.01.006. Epub 2020 Jan 31. Pediatr Neurol. 2020. PMID: 32107139 Free PMC article.
12 results