Mitsuko Nakashima
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Explore the profile of Mitsuko Nakashima including associated specialties, affiliations and a list of published articles.
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215
Citations
4053
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Recent Articles
1.
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, et al.
J Hum Genet
. 2025 Jan;
70(4):181-188.
PMID: 39843638
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains...
2.
Yamoto K, Yamada K, Shimizu K, Miyamoto S, Nakashima M, Saitsu H
Mol Genet Genomic Med
. 2024 Dec;
12(12):e70037.
PMID: 39621529
Background: Uniparental isodisomy (UPiD) refers to a condition, in which both homologous chromosomes are inherited from only one parental homolog, which can result in either imprinting disorders or autosomal recessive...
3.
Bayam E, Tilly P, Collins S, Rivera Alvarez J, Kannan M, Tonneau L, et al.
EMBO Mol Med
. 2024 Nov;
17(1):129-168.
PMID: 39609633
Brain development requires the coordinated growth of structures and cues that are essential for forming neural circuits and cognitive functions. The corpus callosum, the largest interhemispheric connection, is formed by...
4.
Ohira M, Saitsu H, Nakashima M, Sato N, Inoue K, Takao M
BMC Neurol
. 2024 Oct;
24(1):412.
PMID: 39443882
Background: CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by biallelic variants of CLCN2, which encodes chloride channel 2. Although CC2L is associated with distinct radiological features, it...
5.
Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, et al.
Sci Rep
. 2024 Oct;
14(1):24746.
PMID: 39433808
Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying...
6.
Furukawa S, Kato M, Ishiyama A, Kumada T, Yoshida T, Takeshita E, et al.
J Hum Genet
. 2024 Aug;
69(12):629-637.
PMID: 39123069
Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese...
7.
Samejima M, Nakashima M, Shibasaki J, Saitsu H, Kato M
Brain Dev
. 2023 Dec;
46(3):154-159.
PMID: 38044197
Background: Neurooculocardiogenitourinary syndrome (NOCGUS), a multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases, has been reported with missense variant of WD...
8.
Watanabe K, Kubota K, Nakashima M, Saitsu H
Hum Genome Var
. 2023 Nov;
10(1):30.
PMID: 37993422
Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who...
9.
Aoki S, Watanabe K, Kato M, Konishi Y, Kubota K, Kobayashi E, et al.
Neurogenetics
. 2023 Oct;
25(1):3-11.
PMID: 37882972
Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg-dependent, neutral sphingomyelinase family that catalyzes the hydrolysis of the phosphodiester bond of sphingomyelin to form phosphorylcholine and ceramide. Recent studies...
10.
Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, et al.
Am J Med Genet A
. 2023 Oct;
194(3):e63453.
PMID: 37870493
ATP1A2 encodes a subunit of sodium/potassium-transporting adenosine triphosphatase (Na /K -ATPase). Heterozygous pathogenic variants of ATP1A2 cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic...