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239 results

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Page 1
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?
Saito Y, Toyoshima M, Oka A, Zhuo L, Moriwaki S, Yamamoto O, Kanzaki S, Hanaki K, Ninomiya H, Nanba E, Kondo A, Maegaki Y, Ohno K. Saito Y, et al. Among authors: maegaki y. Brain Dev. 2008 Mar;30(3):221-5. doi: 10.1016/j.braindev.2007.08.004. Epub 2007 Sep 17. Brain Dev. 2008. PMID: 17870267
Birth cohort study on the effects of desert dust exposure on children's health: protocol of an adjunct study of the Japan Environment & Children's Study.
Kanatani KT, Adachi Y, Sugimoto N, Noma H, Onishi K, Hamazaki K, Takahashi Y, Ito I, Egawa M, Sato K, Go T, Kurozawa Y, Inadera H, Konishi I, Nakayama T; Japan Environment & Children's Study Group. Kanatani KT, et al. BMJ Open. 2014 Jun 23;4(6):e004863. doi: 10.1136/bmjopen-2014-004863. BMJ Open. 2014. PMID: 24958210 Free PMC article.
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.
Okazaki T, Saito Y, Ueda R, Sugihara S, Tamasaki A, Nishimura Y, Ohno K, Togawa M, Ohno T, Horie A, Honda M, Takenaka A, Nagashima H, Maegaki Y. Okazaki T, et al. Among authors: maegaki y. Pediatr Neurol. 2016 Mar;56:80-85.e2. doi: 10.1016/j.pediatrneurol.2015.11.011. Epub 2015 Dec 13. Pediatr Neurol. 2016. PMID: 26777981
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Narita A, Shirai K, Itamura S, Matsuda A, Ishihara A, Matsushita K, Fukuda C, Kubota N, Takayama R, Shigematsu H, Hayashi A, Kumada T, Yuge K, Watanabe Y, Kosugi S, Nishida H, Kimura Y, Endo Y, Higaki K, Nanba E, Nishimura Y, Tamasaki A, Togawa M, Saito Y, Maegaki Y, Ohno K, Suzuki Y. Narita A, et al. Among authors: maegaki y. Ann Clin Transl Neurol. 2016 Feb 2;3(3):200-15. doi: 10.1002/acn3.292. eCollection 2016 Mar. Ann Clin Transl Neurol. 2016. PMID: 27042680 Free PMC article.
Characterization of SPATA5-related encephalopathy in early childhood.
Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Kurata H, et al. Among authors: maegaki y. Clin Genet. 2016 Nov;90(5):437-444. doi: 10.1111/cge.12813. Epub 2016 Jul 4. Clin Genet. 2016. PMID: 27246907
239 results