Takano K - Search Results

1

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Among authors: takano k. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.

2

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

Takano K, Nakagawa E, Inoue K, Kamada F, Kure S, Goto Y; Japanese Mental Retardation Consortium. Takano K, et al. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):479-84. doi: 10.1002/ajmg.b.30638. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18081026

3

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T. Yamaguchi T, et al. Among authors: takano k. Am J Med Genet A. 2019 Jun;179(6):948-957. doi: 10.1002/ajmg.a.61142. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941898 Review.

4

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y. Morikawa M, et al. Among authors: takano k. Brain Dev. 2017 Oct;39(9):804-807. doi: 10.1016/j.braindev.2017.05.003. Epub 2017 May 24. Brain Dev. 2017. PMID: 28551038 Review.

5

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.

6

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Shimbo H, Takagi M, Okuda M, Tsuyusaki Y, Takano K, Iai M, Yamashita S, Murayama K, Ohtake A, Goto YI, Aida N, Osaka H. Shimbo H, et al. Among authors: takano k. Mol Genet Metab Rep. 2014 Apr 1;1:133-138. doi: 10.1016/j.ymgmr.2014.02.006. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896082 Free PMC article.

7

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.

Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K. Oba H, et al. Among authors: takano k. Spine (Phila Pa 1976). 2017 Dec 1;42(23):E1380-E1385. doi: 10.1097/BRS.0000000000002170. Spine (Phila Pa 1976). 2017. PMID: 28338574

8

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.

Uehara M, Kosho T, Takano K, Inaba Y, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R, Hatakenaka T, Takahashi J. Uehara M, et al. Among authors: takano k. Spine (Phila Pa 1976). 2020 May 15;45(10):E600-E604. doi: 10.1097/BRS.0000000000003347. Spine (Phila Pa 1976). 2020. PMID: 31770315

9

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: takano k. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

10

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: takano k. J Hum Genet. 2014 Aug;59(8):471-4. doi: 10.1038/jhg.2014.51. Epub 2014 Jun 26. J Hum Genet. 2014. PMID: 24965255

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