Publications by authors named "Eri Takeshita"

59Publications

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.

Dev Med Child Neurol 2020 Sep 7. Epub 2020 Sep 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1111/dmcn.14666DOI Listing
September 2020

Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy.

Brain Dev 2020 Aug 29. Epub 2020 Aug 29.

Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.08.005DOI Listing
August 2020

Adaptive behavior and its related factors in children with focal epilepsy.

Epilepsy Behav 2020 Jul 19;108:107092. Epub 2020 Apr 19.

Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.yebeh.2020.107092DOI Listing
July 2020

A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding.

J Neurol Sci 2020 05 22;412:116758. Epub 2020 Feb 22.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan; Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116758DOI Listing
May 2020

Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01.

Brain Dev 2020 Apr 25;42(4):348-356. Epub 2020 Jan 25.

Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan; National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.01.001DOI Listing
April 2020

Ten novel insertion/deletion variants in identified in Japanese patients with Rett syndrome.

Hum Genome Var 2019 18;6:48. Epub 2019 Oct 18.

3Department of Mental Retardation and Birth Defect Research, National Institute of Neurology, NCNP, Kodaira, Tokyo, 187-8551 Japan.

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http://dx.doi.org/10.1038/s41439-019-0078-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804785PMC
October 2019

Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.

Brain Behav 2019 10 30;9(10):e01392. Epub 2019 Aug 30.

Department of Child Neurology, National Center Hospital for Neurology and Psychiatry, NCNP, Tokyo, Japan.

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http://dx.doi.org/10.1002/brb3.1392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790319PMC
October 2019

Static Leukoencephalopathy Associated with 17p13.3 Microdeletion Syndrome: A Case Report.

Neuropediatrics 2019 12 1;50(6):387-390. Epub 2019 Aug 1.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1693972
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http://dx.doi.org/10.1055/s-0039-1693972DOI Listing
December 2019

Cumulative jerk as an outcome measure in nonambulatory Duchenne muscular dystrophy.

Brain Dev 2019 Oct 15;41(9):796-802. Epub 2019 Jun 15.

Department of Pediatrics, Shiga Medical Center for Children, 5-7-30 Moriyama, Moriyama-shi, Shiga 524-0022, Japan.

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http://dx.doi.org/10.1016/j.braindev.2019.06.002DOI Listing
October 2019

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Ann Neurol 2019 08 2;86(2):193-202. Epub 2019 Jul 2.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/ana.25517DOI Listing
August 2019

A novel intragenic deletion in in a Japanese patient with Dandy-Walker malformation.

Hum Genome Var 2019 5;6. Epub 2018 Dec 5.

8Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, 187-8551 Japan.

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http://dx.doi.org/10.1038/s41439-018-0032-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281661PMC
December 2018

A phase I study of TAS-205 in patients with Duchenne muscular dystrophy.

Ann Clin Transl Neurol 2018 Nov 10;5(11):1338-1349. Epub 2018 Oct 10.

National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan.

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http://dx.doi.org/10.1002/acn3.651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243382PMC
November 2018

Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers.

Brain Dev 2018 Nov 10;40(10):918-925. Epub 2018 Jul 10.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.06.012DOI Listing
November 2018

Seizure imitators monitored using video-EEG in children with intellectual disabilities.

Epilepsy Behav 2018 07 20;84:122-126. Epub 2018 May 20.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.yebeh.2018.05.006DOI Listing
July 2018

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

Brain Dev 2018 Oct 16;40(9):837-840. Epub 2018 May 16.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.05.001DOI Listing
October 2018

CO-sensitive tRNA modification associated with human mitochondrial disease.

Nat Commun 2018 05 14;9(1):1875. Epub 2018 May 14.

Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8656, Japan.

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http://dx.doi.org/10.1038/s41467-018-04250-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951830PMC
May 2018

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy.

Sci Transl Med 2018 04;10(437)

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1126/scitranslmed.aan0713DOI Listing
April 2018

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

Brain Dev 2018 Apr 20;40(4):339-342. Epub 2017 Nov 20.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604173027
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http://dx.doi.org/10.1016/j.braindev.2017.11.001DOI Listing
April 2018

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.

Neuromuscul Disord 2017 Jun 3;27(6):569-573. Epub 2017 Apr 3.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2017.03.011DOI Listing
June 2017

[To promote clinical trials for muscular dystrophy].

Authors:
Eri Takeshita

No To Hattatsu 2017 03;49(2):84

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March 2017

Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome.

Neuroophthalmology 2017 Feb 19;41(1):19-23. Epub 2016 Oct 19.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1080/01658107.2016.1236391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278790PMC
February 2017

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Nucleosides Nucleotides Nucleic Acids 2017 Jan 18;36(1):1-6. Epub 2016 Oct 18.

a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.

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http://dx.doi.org/10.1080/15257770.2016.1163381DOI Listing
January 2017

[We fully enjoy our career and life].

No To Hattatsu 2016 May;48(3):159-68

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May 2016

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.

Brain Dev 2016 Oct 21;38(9):785-91. Epub 2016 Apr 21.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.04.001DOI Listing
October 2016

[Dystrophinopathy and Seizure].

Authors:
Eri Takeshita

Brain Nerve 2016 Feb;68(2):128-36

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry.

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http://dx.doi.org/10.11477/mf.1416200362DOI Listing
February 2016

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.

Neuromuscul Disord 2015 Oct 29;25(10):754-7. Epub 2015 Jul 29.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2015.07.006DOI Listing
October 2015

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

J Hum Genet 2014 Jul 15;59(7):405-7. Epub 2014 May 15.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/jhg.2014.41DOI Listing
July 2014

Evaluating the frequency and characteristics of seizures in 142 Japanese patients with Prader-Willi syndrome.

Am J Med Genet A 2013 Aug 3;161A(8):2052-5. Epub 2013 Jul 3.

Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36015DOI Listing
August 2013

Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy.

Brain Dev 2012 Oct 24;34(9):776-9. Epub 2012 Jan 24.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2011.12.010DOI Listing
October 2012

Effect of corpus callosotomy on attention deficit and behavioral problems in pediatric patients with intractable epilepsy.

Epilepsy Behav 2011 Dec 5;22(4):697-704. Epub 2011 Oct 5.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.yebeh.2011.08.027DOI Listing
December 2011

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

J Neurol Sci 2011 Sep 30;308(1-2):168-72. Epub 2011 Jun 30.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X110032
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http://dx.doi.org/10.1016/j.jns.2011.06.008DOI Listing
September 2011

Performance of the NIRS fast scanning system for heavy-ion radiotherapy.

Med Phys 2010 Nov;37(11):5672-82

Medical Physics Research Group, Research Center for Charged Particle Therapy, National Institute of Radiological Sciences, 4-9-1 Anagawa, Inage-ku, Chiba 263-8555, Japan.

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http://dx.doi.org/10.1118/1.3501313DOI Listing
November 2010

Moving target irradiation with fast rescanning and gating in particle therapy.

Med Phys 2010 Sep;37(9):4874-9

Medical Physics Research Group, Research Center for Charged Particle Therapy, National Institute of Radiological Sciences, 4-9-1 Anagawa, Inage-ku, Chiba 263-8555, Japan.

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http://dx.doi.org/10.1118/1.3481512DOI Listing
September 2010