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32 results

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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Improvement of sensory deficits in fragile X mice by increasing cortical interneuron activity after the critical period.
Kourdougli N, Suresh A, Liu B, Juarez P, Lin A, Chung DT, Graven Sams A, Gandal MJ, Martínez-Cerdeño V, Buonomano DV, Hall BJ, Mombereau C, Portera-Cailliau C. Kourdougli N, et al. Among authors: juarez p. Neuron. 2023 Sep 20;111(18):2863-2880.e6. doi: 10.1016/j.neuron.2023.06.009. Epub 2023 Jul 13. Neuron. 2023. PMID: 37451263 Free PMC article.
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.
SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org; SPARK Consortium. SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org, et al. Neuron. 2018 Feb 7;97(3):488-493. doi: 10.1016/j.neuron.2018.01.015. Neuron. 2018. PMID: 29420931 Free PMC article. Review.
Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Salcedo-Arellano MJ, Johnson MD, McLennan YA, Hwang YH, Juarez P, McBride EL, Pantoja AP, Durbin-Johnson B, Tassone F, Hagerman RJ, Martínez-Cerdeño V. Salcedo-Arellano MJ, et al. Among authors: juarez p. Cells. 2023 Aug 23;12(17):2132. doi: 10.3390/cells12172132. Cells. 2023. PMID: 37681866 Free PMC article.
Rheumatoid vasculitis: study of 41 cases.
Olivé A, Riveros A, Juárez P, Morales-Ivorra I, Holgado S, Narváez J. Olivé A, et al. Among authors: juarez p. Med Clin (Barc). 2020 Aug 14;155(3):126-129. doi: 10.1016/j.medcli.2020.01.024. Epub 2020 Mar 5. Med Clin (Barc). 2020. PMID: 32147187 English, Spanish.
Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.
Salcedo-Arellano MJ, Wang JY, McLennan YA, Doan M, Cabal-Herrera AM, Jimenez S, Wolf-Ochoa MW, Sanchez D, Juarez P, Tassone F, Durbin-Johnson B, Hagerman RJ, Martínez-Cerdeño V. Salcedo-Arellano MJ, et al. Among authors: juarez p. Mov Disord. 2021 Aug;36(8):1935-1943. doi: 10.1002/mds.28559. Epub 2021 Mar 24. Mov Disord. 2021. PMID: 33760253 Free PMC article.
32 results