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35 results

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Page 1
Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.
Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Caruso P, Buch K, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM. Kavanaugh BC, et al. medRxiv [Preprint]. 2023 Nov 12:2023.11.11.23298218. doi: 10.1101/2023.11.11.23298218. medRxiv. 2023. Update in: J Med Genet. 2024 Oct 23;61(11):1031-1039. doi: 10.1136/jmg-2024-109973. PMID: 37987014 Free PMC article. Updated. Preprint.
Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder.
Adams RM, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown TL, Nye K, Liu J, Porter BE, Goodspeed K, Bailey RM. Adams RM, et al. Among authors: kavanaugh bc. Genes (Basel). 2024 Oct 18;15(10):1338. doi: 10.3390/genes15101338. Genes (Basel). 2024. PMID: 39457462 Free PMC article.
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. Among authors: kavanaugh bc. Sci Transl Med. 2021 Feb 10;13(580):eaaw0682. doi: 10.1126/scitranslmed.aaw0682. Sci Transl Med. 2021. PMID: 33568516 Free PMC article.
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.
Ozlu C, Adams RM, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Spelbrink EM, Brown TL, Nye K, Liu JS, Bailey RM, Goodspeed K, Porter BE. Ozlu C, et al. Among authors: kavanaugh bc. Dev Med Child Neurol. 2024 Dec 22. doi: 10.1111/dmcn.16218. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39710583
35 results