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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: vogel bn. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. eCollection 2022. Front Neurol. 2022. PMID: 35911905 Free PMC article.
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Santoro JD, et al. Among authors: vogel bn. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. doi: 10.1002/acn3.52023. Epub 2024 Feb 20. Ann Clin Transl Neurol. 2024. PMID: 38375538 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: vogel bn. 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.
14 results