Search Results - "AKASAKA, Noriyuki" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

by Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Nature communications (08.04.2021)

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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

by Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Akasaka, Noriyuki, Magara, Shinichi, Kawashima, Hideshi, Ohashi, Tsukasa, Shiraishi, Hideaki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Brain & development (Tokyo. 1979) (01.03.2016)

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Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

by Kobayashi, Yu, Tohyama, Jun, Akiyama, Tomoyuki, Magara, Shinichi, Kawashima, Hideshi, Akasaka, Noriyuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Brain & development (Tokyo. 1979) (01.03.2017)

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$The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus$

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

by Kobayashi, Yu, Tohyama, Jun, Akasaka, Noriyuki, Yamada, Kei, Hojo, Moemi, Seki, Eijun, Miura, Masaki, Soma, Noriko, Ono, Takeshi, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Human genome variation (23.06.2023)

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Gómez–López-Hernández syndrome in a Japanese patient: A case report

Gómez–López-Hernández syndrome in a Japanese patient: A case report

by Kobayashi, Yu, Kawashima, Hideshi, Magara, Shinichi, Akasaka, Noriyuki, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.03.2015)

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Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

by Kobayashi, Yu, Ohashi, Tsukasa, Akasaka, Noriyuki, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.08.2012)

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Rub epilepsy in an infant with Turner syndrome

Rub epilepsy in an infant with Turner syndrome

by Magara, Shin-ichi, Kawashima, Hideshi, Kobayashi, Yu, Akasaka, Noriyuki, Yamazaki, Sawako, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.08.2015)

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Temporal changes in brain MRI findings in Rasmussen syndrome

Temporal changes in brain MRI findings in Rasmussen syndrome

by Yamazaki, Etsuko, Takahashi, Yukitoshi, Akasaka, Noriyuki, Fujiwara, Tateki, Inoue, Yushi
Published in Epileptic disorders (01.09.2011)

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$Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome$

Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome

by Akasaka, Noriyuki, MD, Tohyama, Jun, MD, Ogawa, Atsushi, MD, Takachi, Takayuki, MD, Watanabe, Akihiro, MD, Asami, Keiko, MD
Published in Pediatric neurology (01.11.2013)

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Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

by Tohyama, Jun, Akasaka, Noriyuki, Osaka, Hitoshi, Maegaki, Yoshihiro, Kato, Mitsuhiro, Saito, Naka, Yamashita, Sumimasa, Ohno, Kousaku
Published in Brain & development (Tokyo. 1979) (01.05.2008)

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Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis

by Muto, Ayako, Oguni, Hirokazu, Takahashi, Yukitoshi, Shirasaka, Yukiyoshi, Sawaishi, Yukio, Yano, Tamami, Hoshida, Toru, Osaka, Hitoshi, Nakasu, Satoru, Akasaka, Noriyuki, Sugai, Kenji, Miyamoto, Akie, Takahashi, Satoru, Suzuki, Motomasa, Ohmori, Iori, Nabatame, Shin, Osawa, Makiko
Published in Brain & development (Tokyo. 1979) (01.06.2010)

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Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

by Kumada, Tomohiro, Ito, Masatoshi, Miyajima, Tomoko, Fujii, Tatsuya, Okuno, Takehiko, Go, Toshin, Hattori, Haruo, Yoshioka, Mieko, Kobayashi, Kenichiro, Kanazawa, Osamu, Tohyama, Jun, Akasaka, Noriyuki, Kamimura, Takanori, Sasagawa, Mutsuo, Amagane, Hideki, Mutoh, Kozo, Yamori, Yuriko, Kanda, Toyoko, Yoshida, Naoko, Hirota, Haruyo, Tanaka, Rieko, Hamada, Yasushi
Published in Brain & development (Tokyo. 1979) (01.03.2005)

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Brain Maturation-Related Spike Localization in Panayiotopoulos Syndrome: Magnetoencephalographic Study

Brain Maturation-Related Spike Localization in Panayiotopoulos Syndrome: Magnetoencephalographic Study

by Saito, Naka, MD, Kanazawa, Osamu, MD, Tohyama, Jun, MD, Akasaka, Noriyuki, MD, Kamimura, Takanori, MD, Toyabe, Shin-ichi, MD, Uchiyama, Makoto, MD
Published in Pediatric neurology (01.02.2008)

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Megalencephaly and Polymicrogyria with Polydactyly Syndrome

Megalencephaly and Polymicrogyria with Polydactyly Syndrome

by Tohyama, Jun, MD, Akasaka, Noriyuki, MD, Saito, Naka, MD, Yoshimura, Junichi, MD, Nishiyama, Kenichi, MD, Kato, Mitsuhiro, MD
Published in Pediatric neurology (01.08.2007)

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Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges

Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges

by Saitoh, Naka, MD, Kanazawa, Osamu, MD, PhD, Tohyama, Jun, MD, PhD, Akasaka, Noriyuki, MD, Kamimura, Takanori, MD
Published in Pediatric neurology (01.03.2007)

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Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I

Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I

by Takahashi, Yukitoshi, Matsuda, Kazumi, Kubota, Yuko, Shimomura, Jiro, Yamasaki, Etsuko, Kudo, Tatsuya, Fukushima, Katsuyuki, Osaka, Hitoshi, Akasaka, Noriyuki, Imamura, Atsushi, Yamada, Shinji, Kondo, Naomi, Fujiwara, Tateki
Published in Clinical & developmental immunology (01.06.2006)

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A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

by Ogasawara, Masashi, Saito, Takashi, Koshimizu, Eriko, Akasaka, Noriyuki, Sasaki, Masayuki
Published in Neuropediatrics (01.12.2019)

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Study of Similarity Law between Electric-Motor Driven Injection Molding Machine and Simulator at Injection Velocity Control

Study of Similarity Law between Electric-Motor Driven Injection Molding Machine and Simulator at Injection Velocity Control

by AKASAKA, Noriyuki
Published in Transactions of the Japan Society of Mechanical Engineers Series C (2003)

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An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography

An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography

by Tohyama, Jun, Akasaka, Noriyuki, Saito, Naka, Kanazawa, Osamu, Morota, Nobuhito, Kameyama, Shigeki
Published in No to hattatsu (01.07.2007)

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

by Kato, Mitsuhiro, Saitoh, Shinji, Kamei, Atsushi, Shiraishi, Hideaki, Ueda, Yuki, Akasaka, Manami, Tohyama, Jun, Akasaka, Noriyuki, Hayasaka, Kiyoshi
Published in American journal of human genetics (01.08.2007)

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