Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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 6
2015 9
2016 4
2017 2
2018 2
2019 4
2020 3
2021 2
2022 3
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

72 results

Results by year

Filters applied: . Clear all
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.
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
Sakuma H, Takanashi JI, Muramatsu K, Kondo H, Shiihara T, Suzuki M, Okanari K, Kasai M, Mitani O, Nakazawa T, Omata T, Shimoda K, Abe Y, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Okumura A, Sakai Y, Tada H, Mizuguchi M; Japanese Pediatric Neuro-COVID-19 Study Group. Sakuma H, et al. Among authors: shiihara t. Front Neurosci. 2023 Feb 27;17:1085082. doi: 10.3389/fnins.2023.1085082. eCollection 2023. Front Neurosci. 2023. PMID: 36922927 Free PMC article.
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.
Kasai M, Sakuma H, Abe Y, Kuki I, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Nishiyama M, Okumura A, Sakai Y, Tada H, Mizuguchi M, Takanashi JI; Japanese Pediatric Neuro-COVID-19 Study Group. Kasai M, et al. J Neurol Sci. 2024 Feb 15;457:122867. doi: 10.1016/j.jns.2024.122867. Epub 2024 Jan 3. J Neurol Sci. 2024. PMID: 38199023 Free article.
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
72 results