Yoshiteru Azuma

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 77 citations

Developmental Anomaly, Mendelian Disorder, Congenital Myasthenic Syndromes +6

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects

Yasuaki Kishimoto, Taichi Kato, Mikako Ito et al. · Journal of Thoracic and Cardiovascular Surgery · 2015 · 62 citations · Full text

Inflammation, Hypertension, Pulmonary Arterial Hypertension +13

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi, Takeshi Mizuguchi, José Ricard Magliocco Ceroni et al. · Journal of Human Genetics · 2019 · 58 citations

Comprehensive Genetic Analysis, Mendelian Disorder, Genetic Disorder +8