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Neuroscience, Cognition, Genetic disorders, Neuromuscular disorders, Developmental disorders
Japan

Activities

Employment (6)

京都大学 / Kyoto University: 京都市左京区 / Sakyo, Kyoto, JP

2023-10-01 to present | 准教授 / Associate Professor (医学研究科 / Graduate Schools of Medicine)
Employment
Source: check_circle
Kyoto University

京都大学 / Kyoto University: 京都市左京区 / Sakyo, Kyoto, JP

2021-04-01 to 2023-09-30 | 特定講師 / Program-Specific Senior Lecturer/Program-Specific Junior Associate Professor (医学研究科 / Graduate Schools of Medicine)
Employment
Source: check_circle
Kyoto University

京都大学 / Kyoto University: 京都市左京区 / Sakyo, Kyoto, JP

2016-07-01 to 2021-03-31 | 特定助教 / Program-Specific Assistant Professor (医学研究科 / Graduate Schools of Medicine)
Employment
Source: check_circle
Kyoto University

京都大学 / Kyoto University: 京都市左京区 / Sakyo, Kyoto, JP

2010-05-01 to 2016-06-30 | 助教 / Assistant Professor (医学部附属病院 / Kyoto University Hospital)
Employment
Source: check_circle
Kyoto University

Kyoto University Hospital: Kyoto, Kyoto, JP

2005-04-01 to 2007-03-31 | Staff physician (Pediatrics)
Employment
Source: Self-asserted source
Tomonari Awaya

Nagoya City University: Nagoya, Aichi, JP

2003-04-01 to 2005-03-31 | Resident (Pediatrics)
Employment
Source: Self-asserted source
Tomonari Awaya

Education and qualifications (2)

Kyoto University: Kyoto, Kyoto, JP

2007-04-01 to 2010-04-30 | PhD (Graduate School of Medicine)
Education
Source: Self-asserted source
Tomonari Awaya

Kyoto University: Kyoto, Kyoto, JP

1997-04-01 to 2003-03-31 | MD (Faculty of Medicine)
Education
Source: Self-asserted source
Tomonari Awaya

Works (45)

Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD

Neurology Genetics
2024-04 | Journal article
Contributors: Rasha El Sherif; Yoshihiko Saito; Tomonari Awaya; Satoru Noguchi; Ichizo Nishino
Source: check_circle
Crossref

Branchpoints as potential targets of exon-skipping therapies for genetic disorders

Molecular Therapy - Nucleic Acids
2023-09 | Journal article
Contributors: Hiroaki Ohara; Motoyasu Hosokawa; Tomonari Awaya; Atsuko Hagiwara; Ryo Kurosawa; Yukiya Sako; Megumu Ogawa; Masashi Ogasawara; Satoru Noguchi; Yuichi Goto et al.
Source: check_circle
Crossref

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

2023-03-20 | Preprint
Contributors: Ryo Kurosawa; Kei Iida; Masahiko Ajiro; Tomonari Awaya; Mamiko Yamada; Kenjiro Kosaki; Masatoshi Hagiwara
Source: check_circle
Crossref

Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome

Pediatrics & Neonatology
2022-05 | Journal article
Contributors: Kentaro Tamura; Tomonari Awaya; Takahito Wada; Tatsuya Fujii; Taketoshi Yoshida
Source: check_circle
Crossref

Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Nature Communications
2021-10-12 | Journal article
Contributors: Masahiko Ajiro; Tomonari Awaya; Young Jin Kim; Kei Iida; Masatsugu Denawa; Nobuo Tanaka; Ryo Kurosawa; Shingo Matsushima; Saiko Shibata; Tetsunori Sakamoto et al.
Source: check_circle
Crossref

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Nature Communications
2021-07-23 | Journal article
Contributors: Masahiko Ajiro; Tomonari Awaya; Young Jin Kim; Kei Iida; Masatsugu Denawa; Nobuo Tanaka; Ryo Kurosawa; Shingo Matsushima; Saiko Shibata; Tetsunori Sakamoto et al.
Source: check_circle
Crossref

Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome

Neuropsychopharmacology
2020-09-01 | Journal article
Contributors: Ryo Kimura; Roy Lardenoije; Kiyotaka Tomiwa; Yasuko Funabiki; Masatoshi Nakata; Shiho Suzuki; Tomonari Awaya; Takeo Kato; Shin Okazaki; Toshiya Murai et al.
Source: check_circle
Crossref

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

Seizure
2019-10 | Journal article
Contributors: Akihisa Okumura; Keiko Shimojima; Hirokazu Kurahashi; Shingo Numoto; Shino Shimada; Atsushi Ishii; Iori Ohmori; Satoru Takahashi; Tomonari Awaya; Tetsuo Kubota et al.
Source: check_circle
Crossref

An epigenetic biomarker for adult high-functioning autism spectrum disorder

Scientific Reports
2019-09-20 | Journal article
Contributors: Ryo Kimura; Masatoshi Nakata; Yasuko Funabiki; Shiho Suzuki; Tomonari Awaya; Toshiya Murai; Masatoshi Hagiwara
Source: check_circle
Crossref

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Molecular Genetics and Metabolism
2017-11 | Journal article
Contributors: Go Tajima; Keiichi Hara; Miyuki Tsumura; Reiko Kagawa; Satoshi Okada; Nobuo Sakura; Shinsuke Maruyama; Atsuko Noguchi; Tomonari Awaya; Mika Ishige et al.
Source: check_circle
Crossref

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells

Scientific Reports
2017-10-18 | Journal article
Contributors: Takeshi Yoshida; Tomonari Awaya; Tatsuya Jonouchi; Ryo Kimura; Shigemi Kimura; Takumi Era; Toshio Heike; Hidetoshi Sakurai
Source: check_circle
Crossref

Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice

Proceedings of the National Academy of Sciences
2017-09-19 | Journal article
Contributors: Akiko Nakano-Kobayashi; Tomonari Awaya; Isao Kii; Yuto Sumida; Yukiko Okuno; Suguru Yoshida; Tomoe Sumida; Haruhisa Inoue; Takamitsu Hosoya; Masatoshi Hagiwara
Source: check_circle
Crossref

A Boy with unilateral neck myoclonus of cortical origin independently on both sides

Seizure
2015 | Journal article
EID:

2-s2.0-84927912755

Contributors: Yoshida, T.; Kato, T.; Awaya, T.; Shibata, M.; Saito, K.; Ide, M.; Matsuhashi, M.; Heike, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

A granulocytosis associated with rufinamide: A case report

Brain and Development
2015 | Journal article
EID:

2-s2.0-84939256244

Contributors: Ide, M.; Kato, T.; Nakata, M.; Saito, K.; Yoshida, T.; Awaya, T.; Heike, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy

Neurology
2015 | Journal article
EID:

2-s2.0-84928137359

Contributors: Munteanu, I.; Ramachandran, N.; Ruggieri, A.; Awaya, T.; Nishino, I.; Minassian, B.A.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells

Scientific Reports
2015 | Journal article
EID:

2-s2.0-84939638032

Contributors: Shoji, E.; Sakurai, H.; Nishino, T.; Nakahata, T.; Heike, T.; Awaya, T.; Fujii, N.; Manabe, Y.; Matsuo, M.; Sehara-Fujisawa, A.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Efficacy and tolerability of topiramate, lamotrigine, and levetiracetam in children with refractory epilepsy

No To Hattatsu
2015 | Journal article
EID:

2-s2.0-84942565408

Contributors: Kato, T.; Nakata, M.; Ide, M.; Saito, K.; Yoshida, T.; Awaya, T.; Heike, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Rheumatology (United Kingdom)
2014 | Journal article
EID:

2-s2.0-84894341342

Contributors: Abe, J.; Nakamura, K.; Nishikomori, R.; Kato, M.; Mitsuiki, N.; Izawa, K.; Awaya, T.; Kawai, T.; Yasumi, T.; Toyoshima, I. et al.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Aicardi-goutières syndrome is caused by IFIH1 mutations

American Journal of Human Genetics
2014 | Journal article
EID:

2-s2.0-84904004005

Contributors: Oda, H.; Nakagawa, K.; Abe, J.; Awaya, T.; Funabiki, M.; Hijikata, A.; Nishikomori, R.; Funatsuka, M.; Ohshima, Y.; Sugawara, Y. et al.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues?

American Journal of Medical Genetics, Part A
2014 | Journal article
EID:

2-s2.0-84902535316

Contributors: Yoshida, T.; Awaya, T.; Shibata, M.; Kato, T.; Numabe, H.; Kobayashi, J.; Komatsu, K.; Heike, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy.

2013-07 | Journal article
Contributors: Shibata M; Kato T; Yoshida T; Saito K; Awaya T; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

2013-02 | Journal article
Contributors: Abe J; Izawa K; Nishikomori R; Awaya T; Kawai T; Yasumi T; Hiragi N; Hiragi T; Ohshima Y; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy.

2012-12 | Journal article
Contributors: Shibata M; Kato T; Awaya T; Adachi S; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

2012-12 | Journal article
Contributors: Yoshida T; Tamura T; Nagai Y; Ueda H; Awaya T; Shibata M; Kato T; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells.

2012 | Journal article
Contributors: Awaya T; Kato T; Mizuno Y; Chang H; Niwa A; Umeda K; Nakahata T; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Variations in early gross motor milestones and in the age of walking in Japanese children.

2011-12 | Journal article
Contributors: Kimura-Ohba S; Sawada A; Shiotani Y; Matsuzawa S; Awaya T; Ikeda H; Okada M; Tomiwa K
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Brain atrophy caused by vitamin B12-deficient anemia in an infant.

2011-10 | Journal article
Contributors: Kamei M; Ito Y; Ando N; Awaya T; Yamada T; Nakagawa M; Yamaguchi A; Ohuchi M; Yazaki M; Togari H
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.

2011-09 | Journal article
Contributors: Awaya T; Kato T; Niwa A; Hiramatsu H; Umeda K; Watanabe K; Shibata M; Yamanaka Y; Maruya E; Saji H et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Inactivation of fibroblast growth factor binding protein 3 causes anxiety-related behaviors.

2011-01 | Journal article
Contributors: Yamanaka Y; Kitano A; Takao K; Prasansuklab A; Mushiroda T; Yamazaki K; Kumada T; Shibata M; Takaoka Y; Awaya T et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Derivation of Engraftable Myogenic Precursors from Murine ES/iPS cells and Generation of Disease-specific iPS cells from Patients with Duchenne Muscular dystrophy (DMD) and Other Diseases

Clinical Neurology
2010 | Journal article
EID:

2-s2.0-84856383890

Contributors: Nakahata, T.; Awaya, T.; Chang, H.; Mizuno, Y.; Niwa, A.; Fukada, S.-I.; Takeda, S.; Yamanaka, S.; Heike, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier
grade
Preferred source (of 2)‎

Derivation of engraftable myogenic precursors from murine ES/iPS cells and generation of disease-specific iPS cells from patients with Duchenne muscular dystrophy (DMD) and other diseases.

2010 | Journal article
SOURCE-WORK-ID:

1128171856277-19

Contributors: Nakahata T; Awaya T; Chang H; Mizuno Y; Niwa A; Fukada S; Takeda S; Yamanaka S; Heike T
Source: Self-asserted source
Tomonari Awaya via ResearcherID

Head growth evaluation in early childhood, from the Japan Children's Study

Pediatrics International
2010 | Journal article
EID:

2-s2.0-77953630983

Contributors: Sawada, A.; Ikeda, H.; Kimura-Ohba, S.; Matsuzawa, S.; Awaya, T.; Shiotani, Y.; Okada, M.; Tomiwa, K.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier
grade
Preferred source (of 2)‎

Overview of the Japan children's study 2004-2009; Cohort study of early childhood development

Journal of Epidemiology
2010 | Journal article
EID:

2-s2.0-77951923056

Contributors: Yamagata, Z.; Maeda, T.; Anme, T.; Sadato, N.; Koizumi, H.; Anji, Y.; Shiotani, Y.; Iwasaki, M.; Kutsuki, A.; Kuroki, M. et al.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier
grade
Preferred source (of 2)‎

Derivation of engraftable myogenic precursors from murine ES/iPS cells and generation of disease-specific iPS cells from patients with Duchenne muscular dystrophy (DMD) and other diseases.

2010-11 | Journal article
Contributors: Nakahata T; Awaya T; Chang H; Mizuno Y; Niwa A; Fukada S; Takeda S; Yamanaka S; Heike T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central

Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development.

2010-08 | Journal article
Contributors: Kumada T; Yamanaka Y; Kitano A; Shibata M; Awaya T; Kato T; Okawa K; Abe T; Oshima N; Nakahata T et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells.

2010-07 | Journal article
Contributors: Mizuno Y; Chang H; Umeda K; Niwa A; Iwasa T; Awaya T; Fukada S; Yamamoto H; Yamanaka S; Nakahata T et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Successful treatment of refractory donor lymphocyte infusion-induced immune-mediated pancytopenia with rituximab.

2010-02 | Journal article
Contributors: Kato I; Umeda K; Awaya T; Yui Y; Niwa A; Fujino H; Matsubara H; Watanabe K; Heike T; Adachi N et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Development of infants' request expressions from 11 to 15 months.

2009-12 | Journal article
Contributors: Kutsuki A; Ogura T; Egami S; Itakura S
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 2)‎

Individual differences in changes in infants' interest in social signals in relation to developmental index.

2009-12 | Journal article
Contributors: Kutsuki A; Kuroki M; Egami S; Ogura T; Itakura S
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 2)‎

Successful autologous peripheral blood stem cell transplantation with a double-conditioning regimen for recurrent hepatoblastoma after liver transplantation.

2009-03 | Journal article
Contributors: Niwa A; Umeda K; Awaya T; Yui Y; Matsubara H; Hiramatsu H; Watanabe K; Adachi S; Itoh T; Uemoto S et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Contribution of parenting factors to the developmental attainment of 9-month-old infants: results from the Japan Children's Study.

2009 | Journal article
Contributors: Cheng S; Maeda T; Tomiwa K; Yamakawa N; Koeda T; Kawai M; Ogura T; Yamagata Z
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 2)‎

A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis.

2008-08 | Journal article
Contributors: Yamamoto H; Yamaguchi E; Agata H; Kandatsu N; Komatsu T; Kawai S; Baba K; Awaya T; Nishikomori R; Tsurusawa M et al.
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Deterioration on magnetic resonance imaging despite good clinical recovery after viral encephalitis.

2008-03 | Journal article
Contributors: Awaya T; Kato T; Shibata M; Yamanaka Y; Nakahata T
Source: Self-asserted source
Tomonari Awaya via Europe PubMed Central
grade
Preferred source (of 3)‎

Progressive cerebral white matter abnormalities with emaciation and short stature

No to hattatsu. Brain and development
2007 | Journal article
EID:

2-s2.0-35548939380

Contributors: Awaya, T.
Source: Self-asserted source
Tomonari Awaya via Scopus - Elsevier

METHOD FOR INDUCING DIFFERENTIATION OF PLURIPOTENT STEM CELLS INTO SKELETAL MUSCLE OR SKELETAL MUSCLE PROGENITOR CELLS

Other
SOURCE-WORK-ID:

1128171856280-38

Contributors: HEIKE TOSHIO; NAKAHATA TATSUTOSHI; AWAYA TOMONARI
Source: Self-asserted source
Tomonari Awaya via ResearcherID

Peer review (9 reviews for 4 publications/grants)

Review activity for Brain & development. (5)
Review activity for Gene. (2)
Review activity for Heliyon. (1)
Review activity for Molecular therapy. (1)