Publications by authors named "Masayasu Ohta"

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Prenatal clinical manifestations in individuals with variants.
Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta

J Med Genet· August 2021

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Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Akiko Shibata, Mariko Kasai, Ai Hoshino, Taku Miyagawa, Hiroshi Matsumoto, Masayasu Ohta

Brain Dev· November 2019

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Masayasu Ohta

Nat Commun· June 2019

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mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, Chai-Soon Khoo, Muzhirah Haniffa, Masayasu Ohta

Epilepsia Open· December 2018

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Anti-signal recognition particle myopathy in the first decade of life.
Shigeaki Suzuki, Masayasu Ohta, Yuko Shimizu, Yukiko K Hayashi, Ichizo Nishino

Pediatr Neurol· August 2011

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Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
Mitushiro Kato, Norihisa Koyama, Masayasu Ohta, Kiyokuni Miura, Kiyoshi Hayasaka

Epilepsia· September 2010

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A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty.
Ken-ichi Kashimada, Toshikazu Onishi, Makoto Ono, Kentaro Miyai, Masayasu Ohta

Endocr J· December 2007

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Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.
Junko Nakayama, Kenzo Hamano, Emiko Noguchi, Yasue Horiuchi, Nobuaki Iwasaki, Masayasu Ohta

Neurosci Lett· June 2003

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Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
Junko Nakayama, Nao Yamamoto, Kenzo Hamano, Nobuaki Iwasaki, Masayasu Ohta

Neurosci Lett· August 2002

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