Ayako Hattori
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Explore the profile of Ayako Hattori including associated specialties, affiliations and a list of published articles.
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61
Citations
378
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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.
Narahara S, Ito Y, Ito T, Nakamura N, Shiraki A, Tanemura K, et al.
Am J Med Genet A
. 2025 Jan;
e63983.
PMID: 39780436
Gait disturbance is a common motor symptom in Angelman syndrome (AS), but its characteristics have been poorly studied quantitatively. This study aimed to analyze gait characteristics in school-age children with...
3.
Fujimoto M, Nakamura Y, Hosoki K, Iwaki T, Sato E, Ieda D, et al.
HGG Adv
. 2024 Aug;
5(4):100342.
PMID: 39169619
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the...
4.
Hori I, Iwaki T, Sato E, Ieda D, Negishi Y, Hattori A, et al.
Brain Dev
. 2024 Aug;
46(10):309-312.
PMID: 39164139
Background: Vici syndrome (VICIS) is a congenital disorder characterized by agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive. This study aimed to elucidate...
5.
Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, et al.
Medicine (Baltimore)
. 2022 Dec;
101(50):e32161.
PMID: 36550847
Purpose: Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine...
6.
Fujimoto M, Nakamura Y, Iwaki T, Sato E, Ieda D, Hattori A, et al.
J Hum Genet
. 2022 Dec;
68(2):111-112.
PMID: 36456768
No abstract available.
7.
Fujimoto M, Nakamura Y, Iwaki T, Sato E, Ieda D, Hattori A, et al.
J Hum Genet
. 2022 Oct;
68(2):87-90.
PMID: 36224263
Angelman syndrome (AS) is caused by the functional absence of the maternal ubiquitin-protein ligase E3A (UBE3A) gene. Approximately 5% of AS is caused by paternal uniparental disomy of chromosome 15...
8.
Kamei M, Hussein M, Hattori A, Saleh M, Kakita H, Abdel-Hamid Daoud G, et al.
Children (Basel)
. 2022 May;
9(5).
PMID: 35626879
The aim of this study was to assess whether oxidative and inflammatory mediators in the cord blood of newborns with funisitis and chorioamnionitis can serve as indicators of their inflammatory...
9.
Suzuki T, Ito Y, Ito T, Kidokoro H, Noritake K, Hattori A, et al.
Pediatr Neurol
. 2022 May;
132:23-26.
PMID: 35605310
Background: Of the patients with glucose transporter 1 deficiency syndrome (GLUT1-DS), 90% have a pathologic gait. Ataxic-spastic and ataxic gaits are seen in 35% of patients each. A ketogenic diet...
10.
Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, et al.
Brain Dev
. 2022 May;
44(8):578-582.
PMID: 35527075
Introduction: Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). The severity of SMA-LED2 varies widely, ranging from cases in which patients...