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Page 1
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
Lizarraga SB, Ma L, Maguire AM, van Dyck LI, Wu Q, Ouyang Q, Kavanaugh BC, Nagda D, Livi LL, Pescosolido MF, Schmidt M, Alabi S, Cowen MH, Brito-Vargas P, Hoffman-Kim D, Gamsiz Uzun ED, Schlessinger A, Jones RN, Morrow EM. Lizarraga SB, et al. Sci Transl Med. 2021 Feb 10;13(580):eaaw0682. doi: 10.1126/scitranslmed.aaw0682. Sci Transl Med. 2021. PMID: 33568516 Free PMC article.
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Pescosolido MF, et al. Mol Neuropsychiatry. 2019 Apr;5(2):98-108. doi: 10.1159/000496341. Epub 2019 Mar 6. Mol Neuropsychiatry. 2019. PMID: 31192222 Free PMC article.
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. Ouyang Q, et al. Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30. Hum Genet. 2019. PMID: 31471722 Free PMC article.
22 results