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

Year Number of Results
2006 1
2008 2
2010 4
2011 1
2014 1
2015 3
2016 3
2018 3
2019 4
2020 7
2021 2
2022 4
2023 3
2024 0

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31 results

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Page 1
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: koichihara r. 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.
Perampanel in lissencephaly-associated epilepsy.
Ikemoto S, Hamano SI, Hirata Y, Matsuura R, Koichihara R. Ikemoto S, et al. Among authors: koichihara r. Epilepsy Behav Case Rep. 2019 Jan 11;11:67-69. doi: 10.1016/j.ebcr.2019.01.001. eCollection 2019. Epilepsy Behav Case Rep. 2019. PMID: 30723672 Free PMC article.
Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome.
Horiguchi A, Koichihara R, Kikuchi K, Nonoyama H, Daida A, Oba D, Hirata Y, Matsuura R, Ohashi H, Hamano SI. Horiguchi A, et al. Among authors: koichihara r. Neuropediatrics. 2023 Oct;54(5):339-343. doi: 10.1055/a-2077-1988. Epub 2023 Apr 19. Neuropediatrics. 2023. PMID: 37075791
Adjunctive perampanel therapy for patients with epileptic spasms.
Matsuura R, Hamano SI, Ikemoto S, Daida A, Takeda R, Horiguchi A, Hirata Y, Koichihara R, Kikuchi K. Matsuura R, et al. Among authors: koichihara r. Pediatr Int. 2022 Jan;64(1):e15364. doi: 10.1111/ped.15364. Pediatr Int. 2022. PMID: 36564346
Zonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia.
Matsuura R, Hamano SI, Hiwatari E, Ikemoto S, Hirata Y, Koichihara R, Kikuchi K. Matsuura R, et al. Among authors: koichihara r. Pediatr Neurol. 2020 Oct;111:23-26. doi: 10.1016/j.pediatrneurol.2020.06.017. Epub 2020 Jun 30. Pediatr Neurol. 2020. PMID: 32951651
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R. Kawarai T, et al. Among authors: koichihara r. Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5. Parkinsonism Relat Disord. 2018. PMID: 29653907
31 results