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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network; Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. Chung HL, et al. Neuron. 2020 May 20;106(4):589-606.e6. doi: 10.1016/j.neuron.2020.02.021. Epub 2020 Mar 12. Neuron. 2020. PMID: 32169171 Free PMC article.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.
Lethal Pediatric Cerebral Vasculitis Triggered by Severe Acute Respiratory Syndrome Coronavirus 2.
Poisson KE, Zygmunt A, Leino D, Fuller CE, Jones BV, Haslam D, Staat MA, Clay G, Ting TV, Wesselkamper K, Hallinan B, Standridge S, Day ME, McNeal M, Stevenson CB, Vawter-Lee M. Poisson KE, et al. Among authors: vawter lee m. Pediatr Neurol. 2022 Feb;127:1-5. doi: 10.1016/j.pediatrneurol.2021.11.003. Epub 2021 Nov 12. Pediatr Neurol. 2022. PMID: 34864371 Free PMC article.
Clinical Reasoning: A neonate with micrognathia and hypotonia.
Vawter-Lee MM, Seals SS, Thomas CW, Venkatesan C. Vawter-Lee MM, et al. Neurology. 2016 Feb 23;86(8):e80-4. doi: 10.1212/WNL.0000000000002397. Neurology. 2016. PMID: 26903494 Free PMC article. No abstract available.
19 results