Publications by authors named "Atsuo Kikuchi"

59Publications

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.

Brain Dev 2020 Oct 20. Epub 2020 Oct 20.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.09.015DOI Listing
October 2020

Hypoketotic hypoglycemia in citrin deficiency: a case report.

BMC Pediatr 2020 Sep 22;20(1):444. Epub 2020 Sep 22.

Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1186/s12887-020-02349-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507238PMC
September 2020

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Eur J Med Genet 2020 Mar 16;63(3):103769. Epub 2019 Sep 16.

Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai-shi, Miyagi, 989-3126, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212193016
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http://dx.doi.org/10.1016/j.ejmg.2019.103769DOI Listing
March 2020

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

Mol Genet Metab 2019 04 18;126(4):362-367. Epub 2019 Mar 18.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8573, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.018DOI Listing
April 2019

Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis.

Pediatr Int 2019 02 15;61(2):190-192. Epub 2019 Feb 15.

Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.

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http://dx.doi.org/10.1111/ped.13764DOI Listing
February 2019

Reply to: Avoid valproate in patients with IARS2 mutations.

Brain Dev 2019 01 22;41(1):122. Epub 2018 Sep 22.

Department of Pediatrics, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.09.004DOI Listing
January 2019

Reply to: A genomic cause of cerebral palsy should not change the clinical classification.

Ann Clin Transl Neurol 2018 Aug 22;5(8):1012. Epub 2018 Jun 22.

Department of Pediatrics Tohoku University School of Medicine 2-1 Seiryo-machi, Aoba-ku Sendai Miyagi 980-8575 Japan.

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http://dx.doi.org/10.1002/acn3.585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093843PMC
August 2018

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.

Brain Dev 2018 Nov 2;40(10):934-938. Epub 2018 Jul 2.

Department of Pediatrics, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.06.010DOI Listing
November 2018

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in .

Clin Pediatr Endocrinol 2018 30;27(1):53-57. Epub 2018 Jan 30.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1297/cpe.27.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792822PMC
January 2018

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

Seizure 2017 Aug 20;50:144-146. Epub 2017 Jun 20.

Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.06.018DOI Listing
August 2017

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

J Hum Genet 2017 Jun 2;62(6):653-655. Epub 2017 Feb 2.

Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.

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http://dx.doi.org/10.1038/jhg.2017.11DOI Listing
June 2017

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving .

Neurol Genet 2017 Feb 23;3(1):e133. Epub 2017 Jan 23.

Department of Pediatrics (R.-M.S.), the First Affiliated Hospital of Xi'an Jiaotong University, China; Division of Genomic Medicine Support and Genetic Counseling (T.K.), Department of Education and Training, Tohoku Medical Megabank Organization (ToMMo), Tohoku University; Department of Pediatrics (R.-M.S., T.K., A.K., R.S., M.U., S.K.), Tohoku University School of Medicine; and Department of Clinical Laboratory (K.A.), Tohoku University Hospital, Sendai, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260483PMC
February 2017

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.

J Clin Immunol 2017 01 17;37(1):67-79. Epub 2016 Oct 17.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1007/s10875-016-0339-5DOI Listing
January 2017

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Pediatr Int 2016 Sep 31;58(9):919-22. Epub 2016 Aug 31.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/ped.13043DOI Listing
September 2016

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Brain Dev 2016 Sep 28;38(8):763-7. Epub 2016 Feb 28.

Division of Medical Genetics, Gunma Children's Medical Center, Gunma 377-8577, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.02.009DOI Listing
September 2016

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

J Pediatr 2016 Apr 5;171:171-7.e1-4. Epub 2016 Feb 5.

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

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http://dx.doi.org/10.1016/j.jpeds.2016.01.006DOI Listing
April 2016

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Hum Genet 2016 Jan 23;135(1):89-98. Epub 2015 Nov 23.

Department of Pediatrics, Tohoku University School of Medicine, 2-1 Seiryomachi, Aobaku, Sendai, 980-8574, Japan.

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http://dx.doi.org/10.1007/s00439-015-1617-7DOI Listing
January 2016

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

Brain Dev 2016 02 11;38(2):257-60. Epub 2015 Sep 11.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1016/j.braindev.2015.07.005DOI Listing
February 2016

Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease.

Brain Res 2015 Jan 13;1594:310-20. Epub 2014 Nov 13.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1016/j.brainres.2014.11.014DOI Listing
January 2015

Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.

Pediatr Cardiol 2015 Jan 2;36(1):244-7. Epub 2014 Oct 2.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryocho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan,

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http://link.springer.com/10.1007/s00246-014-1028-x
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http://dx.doi.org/10.1007/s00246-014-1028-xDOI Listing
January 2015

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

Brain Dev 2015 Apr 20;37(4):449-54. Epub 2014 Aug 20.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, 20 Shishioto, Akiu Yumoto, Taihaku-ku, Sendai-shi, Miyagi 982-0241, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.07.004DOI Listing
April 2015

Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.

Dev Med Child Neurol 2014 Dec 23;56(12):1221-1224. Epub 2014 Jul 23.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.

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http://dx.doi.org/10.1111/dmcn.12553DOI Listing
December 2014

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.

Brain Dev 2015 Mar 18;37(3):362-5. Epub 2014 Jun 18.

Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.06.001DOI Listing
March 2015

Screening of SLC25A13 mutation in the Thai population.

World J Gastroenterol 2013 Nov;19(43):7735-42

Parith Wongkittichote, Graduate Program in Molecular Medicine, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.

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http://dx.doi.org/10.3748/wjg.v19.i43.7735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837273PMC
November 2013

The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome.

Brain Dev 2013 Nov 15;35(10):887-93. Epub 2013 Sep 15.

Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai 982-0241, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.08.011DOI Listing
November 2013

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.

Brain Dev 2014 Jun 16;36(6):532-6. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1016/j.braindev.2013.07.009DOI Listing
June 2014

Correspondence on "Clinical characterization of gastroenteritis-related seizures in children: impact of fever and serum sodium levels".

J Child Neurol 2014 Nov 14;29(11):1578-9. Epub 2013 Aug 14.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1177/0883073813497428DOI Listing
November 2014

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

Am J Med Genet A 2012 Mar 7;158A(3):674-7. Epub 2012 Feb 7.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34258DOI Listing
March 2012

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

Mol Genet Metab 2012 Apr 8;105(4):553-8. Epub 2012 Jan 8.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.024DOI Listing
April 2012

Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome.

J Neurol Sci 2012 Apr 12;315(1-2):77-81. Epub 2011 Dec 12.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1016/j.jns.2011.11.025DOI Listing
April 2012

Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study.

J Child Neurol 2009 Jul 4;24(7):868-73. Epub 2009 Mar 4.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1177/0883073808330186DOI Listing
July 2009