Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Autor: Shin Nabatame, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiko Yanagihara, Katsumi Imai, Toru Ando, Yu Tsuyusaki, Nami Araya, Mayumi Matsufuji, Jun Natsume, Kotaro Yuge, Drago Bratkovic, Hiroshi Arai, Takeshi Okinaga, Takeshi Matsushige, Yoshiteru Azuma, Naoko Ishihara, Satoko Miyatake, Mitsuhiro Kato, Naomichi Matsumoto, Nobuhiko Okamoto, Satoru Takahashi, Satoshi Hattori, Keiichi Ozono

Publikováno v: Journal of the Neurological Sciences. 447:120597

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f5b0ebbe3dbf9f9cfd0e90eebdae99e0
https://doi.org/10.1016/j.jns.2023.120597

Mono-allelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Autor: Eriko Koshimizu, Loora Laan, Ambrin Fatima, Yoshiko Murakami, Takayoshi Koike, Junpei Tanigawa, Uzma Abdullah, Muhammad Akhtar Ali, Maarika Liik, Talia Akram, Mitsuhiro Kato, Casimiro Castillejo-López, Shahid Mahmood Baig, Naomichi Matsumoto, Boris Keren, Joakim Klar, Zafar Ali, Jan Hoeber, Zhe Jin, Satoko Miyatake, Jens Schuster, Niklas Dahl, Cyril Mignot, Bryndis Birnir, Rein Fadoul, Carolina Maya-Gonzalez

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩

International audience; Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df64441b98868fc0dc51bfb34b05df73
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1

Autor: Kunihiko Hashimoto, Michio Otsuki, Hiroyuki Sho, Shin Nabatame, Iichiro Shimomura, Hidehito Kondo, Junpei Tanigawa, Sachiko Kobayashi, Keiichi Ozono, Kazuko Tanikawa, Azusa Maruoka, Ryoko Inui

Publikováno v: Journal of the Endocrine Society

Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. Patients with HS also present with end

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc91ee3b08f9ca34c38b57b702ca44d2
https://doi.org/10.1210/jendso/bvaa041

Abnormal cortical activation during an auditory word comprehension task in benign childhood epilepsy with centrotemporal spikes: A magnetoencephalographic study

Autor: Yoko Kato, Yoshiko Iwatani, Masako Taniike, Junji Azuma, Ryuzo Hanaie, Junpei Tanigawa, Kuriko Kagitani-Shimono, Junko Matsuzaki

Publikováno v: Epilepsybehavior : EB. 87

Objective Benign childhood epilepsy with centrotemporal spikes (BECTS), also known as rolandic epilepsy, has recently been reported to be associated with variable degrees of cognitive dysfunction. Many studies reported poor language ability in childr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a09890fb34fcc59ce56f4c18dd52dec8
https://pubmed.ncbi.nlm.nih.gov/30120072

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

Autor: Junpei, Tanigawa, Haruka, Mimatsu, Seiji, Mizuno, Nobuhiko, Okamoto, Daisuke, Fukushi, Koji, Tominaga, Hiroyuki, Kidokoro, Yukako, Muramatsu, Eriko, Nishi, Shota, Nakamura, Daisuke, Motooka, Noriko, Nomura, Kiyoshi, Hayasaka, Tetsuya, Niihori, Yoko, Aoki, Shin, Nabatame, Masahiro, Hayakawa, Jun, Natsume, Keiichi, Ozono, Taroh, Kinoshita, Nobuaki, Wakamatsu, Yoshiko, Murakami

Publikováno v: Human mutation. 38(7)

Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::895c096aafa83c099cc93ac4180ff22f
https://pubmed.ncbi.nlm.nih.gov/28337824