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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 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.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY; Brain Development Study Group; Poduri A, Yang E, Walsh CA. Shao DD, et al. Among authors: srivastava s. Ann Neurol. 2020 Dec;88(6):1153-1164. doi: 10.1002/ana.25904. Epub 2020 Oct 8. Ann Neurol. 2020. PMID: 32959437 Free PMC article.
Unusual Behaviors in a 7-year-old Boy.
Chang L, Shao DD, Eichler FS, Srivastava S. Chang L, et al. Among authors: srivastava s. Pediatr Rev. 2021 Jan;42(Suppl 1):S122-S125. doi: 10.1542/pir.2019-0244. Pediatr Rev. 2021. PMID: 33386381 No abstract available.
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.
Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY; Developmental Synaptopathies Consortium. Uljarević M, et al. Among authors: srivastava s. Am J Med Genet A. 2021 Nov;185(11):3401-3410. doi: 10.1002/ajmg.a.62458. Epub 2021 Aug 23. Am J Med Genet A. 2021. PMID: 34423884 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. Among authors: srivastava s. Hum Mol Genet. 2022 Feb 21;31(4):625-637. doi: 10.1093/hmg/ddab280. Hum Mol Genet. 2022. PMID: 34559195 Free PMC article.
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S. Dohrn MF, et al. Among authors: srivastava s. Neurology. 2022 Mar 15;98(11):440-445. doi: 10.1212/WNL.0000000000013276. Epub 2022 Feb 2. Neurology. 2022. PMID: 35110381 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: srivastava s. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
6,124 results