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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
Dhawan A, Baitamouni S, Liu D, Busch R, Klaas P, Frazier TW, Srivastava S, Parikh S, Hsich GE, Friedman NR, Ritter DM, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. Dhawan A, et al. Among authors: martinez agosto ja. Ann Clin Transl Neurol. 2024 May;11(5):1301-1309. doi: 10.1002/acn3.52046. Epub 2024 Mar 19. Ann Clin Transl Neurol. 2024. PMID: 38501559 Free PMC article.
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline 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. J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17. J Autism Dev Disord. 2022. PMID: 33595755 Free PMC article.
Psychiatric Characteristics Across Individuals With PTEN Mutations.
Steele M, Uljarević M, Rached G, Frazier TW, Phillips JM, Libove RA, Busch RM, Klaas P, Martinez-Agosto JA, Srivastava S, Eng C, Sahin M, Hardan AY. Steele M, et al. Front Psychiatry. 2021 Aug 17;12:672070. doi: 10.3389/fpsyt.2021.672070. eCollection 2021. Front Psychiatry. 2021. PMID: 34489750 Free PMC article.
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A; Developmental Synaptopathies Consortium. Srivastava S, et al. Hum Mol Genet. 2022 Oct 10;31(20):3393-3404. doi: 10.1093/hmg/ddac111. Hum Mol Genet. 2022. PMID: 35594551 Free PMC article. Clinical Trial.
Truncating mutations in APP cause a distinct neurological phenotype.
Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V; UCLA Clinical Genomics Center; Nelson SF, Martinez-Agosto JA. Klein S, et al. Ann Neurol. 2016 Sep;80(3):456-60. doi: 10.1002/ana.24727. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27422356 Free PMC article.
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R; Undiagnosed Diseases Network; Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Diaz F, et al. Ann Clin Transl Neurol. 2020 Nov;7(11):2320-2325. doi: 10.1002/acn3.51209. Epub 2020 Oct 15. Ann Clin Transl Neurol. 2020. PMID: 33058507 Free PMC article.
171 results