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
11.
Isobe K, Ieda D, Miya F, Miyachi R, Otsuji S, Asai M, et al.
Brain Dev
. 2021 Dec;
44(3):249-253.
PMID: 34916088
Introduction: KIF1A, a gene that encodes a neuron-specific motor protein, plays important roles in cargo transport along neurites. Variants in KIF1A have been described in three different disorders, and neurodegeneration...
12.
Hori I, Ieda D, Ito S, Ebe S, Nakamura Y, Ohashi K, et al.
Brain Dev
. 2021 Jan;
43(4):590-595.
PMID: 33402283
Introduction: Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants...
13.
Iwayama H, Wakao N, Kurahashi H, Kubota N, Hattori A, Kumagai T, et al.
Brain Dev
. 2020 Aug;
43(1):121-126.
PMID: 32773161
Objective: To assess the success rate, procedure time, and adverse events of intrathecal administration of nusinersen via the paramedian approach in adolescents and adults with spinal muscular atrophy (SMA) associated...
14.
Natsume J, Ishihara N, Azuma Y, Nakata T, Takeuchi T, Tanaka M, et al.
Brain Dev
. 2020 Aug;
43(1):69-77.
PMID: 32739099
Purpose: To establish an objective method of [F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods: FDG-PET was performed in...
15.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, et al.
J Med Genet
. 2020 Aug;
58(8):505-513.
PMID: 32732225
Background: Variants in the type IV collagen gene () cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with variants remain unclear. Methods: We...
16.
Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, et al.
Epilepsy Behav
. 2020 Jul;
111:107321.
PMID: 32698109
Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have a large impact on patients and their families. Improving intellectual ability outcomes using preventive vigabatrin (VGB) treatment has recently been reported....
17.
Kondo Y, Aoyama K, Suzuki H, Hattori A, Hori I, Ito K, et al.
Hum Genome Var
. 2020 Jun;
7:19.
PMID: 32528716
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including and ....
18.
Ogawa C, Kidokoro H, Ishihara N, Tsuji T, Kurahashi H, Hattori A, et al.
Pediatr Neurol
. 2020 Apr;
109:79-84.
PMID: 32303390
Objective: To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study Design: We investigated clinical...
19.
Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, et al.
Brain Dev
. 2020 Jan;
42(3):298-301.
PMID: 31899079
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1,...
20.
Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, et al.
Hum Genome Var
. 2019 Oct;
6:43.
PMID: 31645981
Patients with variants in exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected...