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Page 1
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Santoro JD, et al. Among authors: franklin c. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. eCollection 2022. Front Neurol. 2022. PMID: 35911905 Free PMC article.
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: franklin c. Genet Med. 2020 Apr;22(4):767-776. doi: 10.1038/s41436-019-0706-8. Epub 2019 Nov 26. Genet Med. 2020. PMID: 31767984 Free article.
Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder.
Santoro J, Spinazzi N, Filipink R, Hayati-Rezvan P, Kammeyer R, Patel L, Sannar E, Dwyer L, Banerjee A, Khoshnood M, Jafarpour S, Boyd N, Partridge R, Gombolay G, Christy A, Real de Asua D, Del Carmen Ortega M, Manning M, Van Mater H, Worley G, Franklin C, Stanley M, Brown R, Capone G, Quinn E, Rafii M. Santoro J, et al. Among authors: franklin c. Res Sq [Preprint]. 2023 Feb 13:rs.3.rs-2521595. doi: 10.21203/rs.3.rs-2521595/v1. Res Sq. 2023. Update in: Transl Psychiatry. 2023 Aug 8;13(1):276. doi: 10.1038/s41398-023-02579-z PMID: 36824719 Free PMC article. Updated. Preprint.
Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.
Santoro JD, Spinazzi NA, Filipink RA, Hayati-Rezvan P, Kammeyer R, Patel L, Sannar EA, Dwyer L, Banerjee AK, Khoshnood M, Jafarpour S, Boyd NK, Partridge R, Gombolay GY, Christy AL, Real de Asua D, Del Carmen Ortega M, Manning MA, Van Mater H, Worley G, Franklin C, Stanley MA, Brown R, Capone GT, Quinn EA, Rafii MS. Santoro JD, et al. Among authors: franklin c. Transl Psychiatry. 2023 Aug 8;13(1):276. doi: 10.1038/s41398-023-02579-z. Transl Psychiatry. 2023. PMID: 37553347 Free PMC article.
De novo variants in immune regulatory genes in Down syndrome regression disorder.
Jafarpour S, Banerjee AK, Khoshnood MM, Vogel BN, Boyd NK, Nguyen L, Partridge R, Santoro SL, Gombolay GY, Fisher KS, de Asua DR, Del Ortega MC, Franklin C, Rafii MS, Santoro JD. Jafarpour S, et al. Among authors: franklin c. J Neurol. 2024 Aug;271(8):5567-5576. doi: 10.1007/s00415-024-12521-y. Epub 2024 Jun 22. J Neurol. 2024. PMID: 38909119 Free PMC article.
1,180 results