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

Year Number of Results
1979 1
1981 1
1988 1
1995 1
1997 1
2000 2
2002 2
2003 4
2004 2
2005 3
2006 3
2007 3
2008 1
2009 5
2010 8
2011 6
2012 3
2013 3
2014 5
2015 9
2016 4
2017 2
2018 1
2019 4
2020 3
2021 2
2022 1
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66 results
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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: shiihara t. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
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: shiihara t. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Response.
Moriyama K, Watanabe M, Yamada Y, Shiihara T. Moriyama K, et al. Among authors: shiihara t. Pediatr Neurol. 2015 Jun;52(6):e13. doi: 10.1016/j.pediatrneurol.2015.03.002. Epub 2015 Mar 6. Pediatr Neurol. 2015. PMID: 25828480 No abstract available.
Acute encephalopathy in children with tuberous sclerosis complex.
Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T, Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura A. Numoto S, et al. Among authors: shiihara t. Orphanet J Rare Dis. 2021 Jan 6;16(1):5. doi: 10.1186/s13023-020-01646-8. Orphanet J Rare Dis. 2021. PMID: 33407677 Free PMC article.
Behavioral problems and family distress in tuberous sclerosis complex.
Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, Shiihara T, Ohashi K, Hattori A, Saitoh S, Kure S. Uematsu M, et al. Among authors: shiihara t. Epilepsy Behav. 2020 Oct;111:107321. doi: 10.1016/j.yebeh.2020.107321. Epub 2020 Jul 19. Epilepsy Behav. 2020. PMID: 32698109
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations.
Dowa Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M. Dowa Y, et al. Among authors: shiihara t. Oxf Med Case Reports. 2020 May 6;2020(3):omaa008. doi: 10.1093/omcr/omaa008. eCollection 2020 Mar. Oxf Med Case Reports. 2020. PMID: 32395249 Free PMC article.
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Akita T, et al. Among authors: shiihara t. Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560374 Free PMC article.
66 results