Harvard Catalyst Profiles

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Tojo Nakayama, Ph.D., M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. PMID: 33658631; PMCID: PMC9472083.
    Citations: 4     Fields:    Translation:Humans
  2. Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan DJ, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 10; 38(10):1348-1354. PMID: 28493438; PMCID: PMC5599341.
    Citations: 21     Fields:    Translation:HumansCells
  3. Suzuki-Muromoto, S, Uematsu M, Sato H, Numata-Uematsu Y, Nakayama T, Kiluchi A, Kobayashi T, Hino-Fukuyo N, Kure S. Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms. No To Hattatsu. 2016 Nov; 48(6):413-9. PMID: 30010289.
    Citations:    Fields:    Translation:Humans
  4. Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016 09 20; 113(38):E5598-607. PMID: 27601654; PMCID: PMC5035873.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  5. Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet. 2015 Jun; 134(6):649-58. PMID: 25877686.
    Citations: 23     Fields:    Translation:HumansCellsCTClinical Trials
  6. Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. PMID: 25865492; PMCID: PMC4570282.
    Citations: 28     Fields:    Translation:Humans
  7. Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy. Brain Dev. 2014 Jun; 36(6):532-6. PMID: 23958593.
    Citations: 1     Fields:    Translation:Humans
  8. Iwasaki M, Uematsu M, Sato Y, Nakayama T, Haginoya K, Osawa S, Itabashi H, Jin K, Nakasato N, Tominaga T. Complete remission of seizures after corpus callosotomy. J Neurosurg Pediatr. 2012 Jul; 10(1):7-13. PMID: 22681320.
    Citations: 13     Fields:    Translation:Humans
  9. Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K. Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat. 2010 Jul; 31(7):820-9. PMID: 20506560.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  10. Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S. Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. J Child Neurol. 2009 Jul; 24(7):868-73. PMID: 19264735.
    Citations: 3     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.