Publications by authors named "Chihiro Ohba"

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Long-term clinical observation of patients with heterozygous KIF1A variants.
Aritomo Kawashima, Kaori Kodama, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Chihiro Ohba

Am J Med Genet A· October 2024

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Chihiro Ohba

Genet Med· December 2022

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H-ATPases is essential for brain development in humans and mice.
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Chihiro Ohba

Nat Commun· April 2021

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Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.
Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba

Mol Genet Genomic Med· July 2019

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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, Eiji Nakagawa, Tetsuya Okazaki, Chihiro Ohba

J Med Genet· June 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, Chihiro Ohba

Nat Commun· June 2019

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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Chihiro Ohba

Brain· June 2018

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De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba

Brain Dev· May 2018

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Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba

J Hum Genet· March 2018

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variants in and cause neurodevelopmental disorders.
Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Chihiro Ohba

Ann Clin Transl Neurol· March 2018

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Hiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, Takuma Shibata, Hiroyuki Wakamoto, Chihiro Ohba

Am J Hum Genet· February 2018

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Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Chihiro Ohba

Brain Dev· January 2018

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Chihiro Ohba

J Hum Genet· June 2017

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Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Chihiro Ohba

J Neurol Sci· May 2017

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A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Karin Kojima, Rie Anzai, Chihiro Ohba, Tomohide Goto, Akihiko Miyauchi

Brain Dev· November 2016

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Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura

Am J Hum Genet· October 2016

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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai

Sci Rep· July 2016

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Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, Chihiro Ohba, Emi Iwabuchi

J Hum Genet· June 2016

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The first genetically confirmed Japanese patient with mucolipidosis type IV.
Harumi Saijo, Masaharu Hayashi, Takanori Ezoe, Chihiro Ohba, Hirotomo Saitsu

Clin Case Rep· May 2016

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De novo GABRA1 mutations in Ohtahara and West syndromes.
Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, Toshiyuki Maeda, Kaoru Araki

Epilepsia· April 2016

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De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama

J Hum Genet· December 2015

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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg-Stern, Yu Kobayashi, Chihiro Ohba

Sci Rep· October 2015

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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
Shinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, Kimio Minagawa, Masaru Shimura

J Hum Genet· September 2015

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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, Jun Tohyama, Mitsuhiro Kato, Chihiro Ohba

Ann Neurol· September 2015

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De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara

Epilepsia· September 2015

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