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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 2
1982 1
1983 1
1986 1
1990 2
1991 2
1992 2
1993 2
1994 4
1995 4
1996 3
1997 6
1998 2
1999 1
2000 3
2001 4
2002 2
2003 3
2004 5
2005 3
2006 6
2007 11
2008 8
2009 9
2010 4
2011 9
2012 6
2013 6
2014 7
2015 16
2016 11
2017 9
2018 10
2019 8
2020 5
2021 10
2022 8
2023 8
2024 4
2025 4

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187 results

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Page 1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: tohyama j. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: tohyama j. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Thymic stromal lymphopoietin induces adipose loss through sebum hypersecretion.
Choa R, Tohyama J, Wada S, Meng H, Hu J, Okumura M, May RM, Robertson TF, Pai RL, Nace A, Hopkins C, Jacobsen EA, Haldar M, FitzGerald GA, Behrens EM, Minn AJ, Seale P, Cotsarelis G, Kim B, Seykora JT, Li M, Arany Z, Kambayashi T. Choa R, et al. Among authors: tohyama j. Science. 2021 Jul 30;373(6554):eabd2893. doi: 10.1126/science.abd2893. Science. 2021. PMID: 34326208 Free PMC article.
Efficacy and safety of adjunctive lacosamide in the treatment of primary generalised tonic-clonic seizures: a double-blind, randomised, placebo-controlled trial.
Vossler DG, Knake S, O'Brien TJ, Watanabe M, Brock M, Steiniger-Brach B, Williams P, Roebling R; SP0982 co-investigators. Vossler DG, et al. J Neurol Neurosurg Psychiatry. 2020 Oct;91(10):1067-1075. doi: 10.1136/jnnp-2020-323524. Epub 2020 Aug 18. J Neurol Neurosurg Psychiatry. 2020. PMID: 32817358 Free PMC article. Clinical Trial.
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Hamanaka K, Fujita A, Miyatake S, Misawa K, Koshimizu E, Uchiyama Y, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama H, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi JI, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, Matsumoto N. Hamanaka K, et al. Among authors: tohyama j. NPJ Genom Med. 2025 Aug 26;10(1):60. doi: 10.1038/s41525-025-00521-4. NPJ Genom Med. 2025. PMID: 40858643 Free PMC article.
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: tohyama j. Eur J Hum Genet. 2024 Dec;32(12):1551-1558. doi: 10.1038/s41431-023-01335-7. Epub 2023 Mar 27. Eur J Hum Genet. 2024. PMID: 36973392 Free PMC article.
Ketogenic diet for focal epilepsy with.
Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Kishimoto K, et al. Among authors: tohyama j. Epileptic Disord. 2022 Jun 1;24(4):1-3. doi: 10.1684/epd.2022.1441. Epileptic Disord. 2022. PMID: 35653110 English. No abstract available.
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A, Kato M, Sugano H, Iimura Y, Suzuki H, Tohyama J, Fukuda M, Ito Y, Baba S, Okanishi T, Enoki H, Fujimoto A, Yamamoto A, Kawamura K, Kato S, Honda R, Ono T, Shiraishi H, Egawa K, Shirai K, Yamamoto S, Hayakawa I, Kawawaki H, Saida K, Tsuchida N, Uchiyama Y, Hamanaka K, Miyatake S, Mizuguchi T, Nakashima M, Saitsu H, Miyake N, Kakita A, Matsumoto N. Fujita A, et al. Among authors: tohyama j. Acta Neuropathol Commun. 2023 Mar 2;11(1):33. doi: 10.1186/s40478-023-01532-x. Acta Neuropathol Commun. 2023. PMID: 36864519 Free PMC article.
Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy.
Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Kishimoto K, et al. Among authors: tohyama j. Epileptic Disord. 2022 Aug 1;24(4):726-728. doi: 10.1684/epd.2022.1441. Epileptic Disord. 2022. PMID: 35925050 English. No abstract available.
187 results