Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

Autor: Furukawa S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Nomura T; Department of Pediatrics, Kawaguchi Municipal Medical Center, Saitama, Japan., Sumitomo N; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan., Yoneno S; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan., Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63453. Date of Electronic Publication: 2023 Oct 23.

Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis.

Autor: Arizono E; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.; Department of Radiology, Tokyo Medical University, Tokyo, Japan., Sato N; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Shigemoto Y; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Kimura Y; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Chiba E; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Maki H; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Matsuda H; Department of Biofunctional Imaging, Fukushima Medical University, Fukushima, Japan., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Shimizu-Motohashi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Saito K; Department of Radiology, Tokyo Medical University, Tokyo, Japan.

Publikováno v: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2023 Nov; Vol. 83 (7), pp. 665-673. Date of Electronic Publication: 2023 Aug 21.

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia.

Autor: Zhang, Xin^1,2 (AUTHOR), Qiu, Shiyan² (AUTHOR), Yang, Li² (AUTHOR) taishanjiaoxia39@163.com, Li, Yufen² (AUTHOR), Xu, Liyun² (AUTHOR), Xu, Na² (AUTHOR), Mi, Changrui² (AUTHOR), Li, Menglin² (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. May2023, Vol. 11 Issue 5, p1-11. 11p.

Two different Na,K-ATPases in the optic nerve: cells of origin and axonal transport.

Autor: Specht, S C, Sweadner, K J

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America; February 1984, Vol. 81 Issue: 4 p1234-1238, 5p

Fine specificity mapping and topography of an isozyme-specific epitope of the Na,K-ATPase catalytic subunit.

Autor: Felsenfeld, D P, Sweadner, K J

Publikováno v: Journal of Biological Chemistry; August 1988, Vol. 263 Issue: 22 p10932-10942, 11p