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Yoshiteru Azuma
Observed names:
Azuma, Yoshiteru,
Y. Azuma
Institution:
Aichi Medical University
Observed institutions:
University of Lisbon,
Fujita Health University,
Aichi Medical University,
Leibniz Institute for Analytical Sciences - ISAS,
Universidade Federal do Paraná,
Nagoya University,
Newcastle University,
Yokohama City University
show all 8
ORCID:
0000-0002-5363-5638
Observed ORCID:
0000-0002-5363-5638
OpenAlex ID:
A5047456769
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
2016
·
Stéphanie Bauché
, Seana O’Regan
, et al.
·
The American Journal of Human Genetics
·
94
PDF
Molecular characterization of congenital myasthenic syndromes in Spain
2017
·
D. Natera-de Benito
, A. Töpf
, et al.
·
Neuromuscular Disorders
·
84
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019
·
Futoshi Sekiguchi
, Yoshinori Tsurusaki
, et al.
·
Journal of Human Genetics
·
75
Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects
2015
·
Yasuaki Kishimoto
, Taichi Kato
, et al.
·
Journal of Thoracic and Cardiovascular Surgery
·
62
PDF
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
2019
·
Hiromi Aoi
, Takeshi Mizuguchi
, et al.
·
Journal of Human Genetics
·
59
MYRF is associated with encephalopathy with reversible myelin vacuolization
2017
·
Hirokazu Kurahashi
, Yoshiteru Azuma
, et al.
·
Annals of Neurology
·
57
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
2020
·
Kohei Hamanaka
, Eri Imagawa
, et al.
·
The American Journal of Human Genetics
·
54
PDF
Prenatal clinical manifestations in individuals with COL4A1/2 variants
2020
·
Toshiyuki Itai
, Satoko Miyatake
, et al.
·
Journal of Medical Genetics
·
50
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
2022
·
Kohei Hamanaka
, Noriko Miyake
, et al.
·
Genome Medicine
·
48
PDF
Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion
2015
·
Yuji Ito
, Jun Natsume
, et al.
·
Epilepsia
·
43
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
2015
·
Mohammad Alinoor Rahman
, Yoshiteru Azuma
, et al.
·
Scientific Reports
·
41
PDF
Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
2017
·
Sophie Nicole
, Yoshiteru Azuma
, et al.
·
Journal of Neuromuscular Diseases
·
38
PDF
Long‐term Follow‐up of Patients with Benign Partial Epilepsy in Infancy
2006
·
Akihisa Okumura
, Kazuyoshi Watanabe
, et al.
·
Epilepsia
·
37
PDF
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
2016
·
Akihide Shibata
, Tatsuya Okuno
, et al.
·
Journal of Human Genetics
·
35
Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction
2013
·
Tomohiko Nakata
, Mikako Ito
, et al.
·
Human Mutation
·
35
PDF
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
2020
·
Toshiyuki Itai
, Kohei Hamanaka
, et al.
·
Human Mutation
·
34
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
2020
·
Yuri Uchiyama
, Daisuke Yamaguchi
, et al.
·
Human Mutation
·
34
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
2020
·
Hiromi Aoi
, Takeshi Mizuguchi
, et al.
·
Journal of Human Genetics
·
26
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
2023
·
Kiran Polavarapu
, Balaraju Sunitha
, et al.
·
Brain
·
25
PDF
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
2021
·
Rie Seyama
, Naomi Tsuchida
, et al.
·
Journal of Human Genetics
·
25
Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits
2014
·
Yoshiteru Azuma
, Tomohiko Nakata
, et al.
·
Neuromuscular Disorders
·
23
PDF
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
2019
·
Yoichiro Oda
, Yuri Uchiyama
, et al.
·
Journal of Human Genetics
·
21
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
2018
·
Eduardo de Paula Estephan
, Cláudia Ferreira da Rosa Sobreira
, et al.
·
Journal of Neurology
·
20
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
2024
·
Iker Núñez-Carpintero
, Maria Rigau
, et al.
·
Nature Communications
·
18
PDF
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
2023
·
Alessia Pugliese
, Adela Della Marina
, et al.
·
Journal of Neurology
·
15
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Works count:
62
Citation count:
1,193
H-index:
21
I10-index:
31
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