Publications by authors named "Satoko Kumada"

48Publications

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

Eur J Med Genet 2020 Nov 30;63(11):104057. Epub 2020 Aug 30.

Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2020.104057DOI Listing
November 2020

A nationwide survey of bilirubin encephalopathy in preterm infants in Japan.

Brain Dev 2020 Nov 10;42(10):730-737. Epub 2020 Jul 10.

Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.06.010DOI Listing
November 2020

IVIG in childhood primary angiitis of the central nervous system: A case report.

Brain Dev 2020 Oct 1;42(9):675-679. Epub 2020 Jul 1.

Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.06.007DOI Listing
October 2020

Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis.

Clin Neurol Neurosurg 2020 Sep 12;196:106015. Epub 2020 Jun 12.

Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.clineuro.2020.106015DOI Listing
September 2020

[Ataxia Telangiectasia].

Authors:
Satoko Kumada

Brain Nerve 2019 Apr;71(4):380-382

Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital.

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http://dx.doi.org/10.11477/mf.1416201280DOI Listing
April 2019

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Brain Dev 2019 Feb 6;41(2):150-157. Epub 2018 Oct 6.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.09.007DOI Listing
February 2019

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Brain Dev 2018 Aug 17;40(7):566-569. Epub 2018 Apr 17.

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

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http://dx.doi.org/10.1016/j.braindev.2018.03.012DOI Listing
August 2018

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Mov Disord 2018 01 22;33(1):177-179. Epub 2017 Nov 22.

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

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http://dx.doi.org/10.1002/mds.27219DOI Listing
January 2018

Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome.

Pediatr Neurol 2017 12 27;77:91. Epub 2017 Jun 27.

Department of Neuro-otology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.005DOI Listing
December 2017

Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

Mov Disord Clin Pract 2015 Jun 30;2(2):190-191. Epub 2015 Mar 30.

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

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http://dx.doi.org/10.1002/mdc3.12158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353478PMC
June 2015

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

Rituximab ameliorates anti-N-methyl-D-aspartate receptor encephalitis by removal of short-lived plasmablasts.

J Neuroimmunol 2013 Dec 28;265(1-2):128-30. Epub 2013 Sep 28.

Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2013.09.017DOI Listing
December 2013

Autoimmune neurological disorders associated with group-A beta-hemolytic streptococcal infection.

Brain Dev 2013 Aug 9;35(7):670-4. Epub 2012 Nov 9.

Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2012.10.003DOI Listing
August 2013

Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

J Neurol 2012 Nov 18;259(11):2329-34. Epub 2012 Apr 18.

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

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http://link.springer.com/content/pdf/10.1007/s00415-012-6493
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http://link.springer.com/10.1007/s00415-012-6493-7
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http://dx.doi.org/10.1007/s00415-012-6493-7DOI Listing
November 2012

[Effects of piracetam therapy in a case of Lance-Adams syndrome].

No To Hattatsu 2009 Sep;41(5):357-60

Department of Neuropediatrics, Fuchu, Tokyo.

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September 2009

The axonal damage marker tau protein in the cerebrospinal fluid is increased in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain Dev 2010 Jun 12;32(6):435-9. Epub 2009 Aug 12.

Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Fuchu, Tokyo 183-0042, Japan.

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http://dx.doi.org/10.1016/j.braindev.2009.07.004DOI Listing
June 2010

Hemorrhage due to tracheoarterial fistula with severe motor and intellectual disability.

Pediatr Int 2008 Jun;50(3):337-40

Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for Disabled, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2008.02573.xDOI Listing
June 2008

Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy.

Brain Dev 2007 Sep 20;29(8):473-81. Epub 2007 Feb 20.

Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashi-dai, Fuchu-shi, Tokyo 183-8526, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040700024
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http://dx.doi.org/10.1016/j.braindev.2006.12.008DOI Listing
September 2007

Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.

Acta Neuropathol 2006 Feb 8;111(2):168-77. Epub 2006 Feb 8.

Department of Pediatrics, Metropolitan Fuchu Medical Center for SMID, 2-9-2 Musashi-dai, Fuchu-shi, 183-0042, Tokyo, Japan.

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http://dx.doi.org/10.1007/s00401-005-0024-xDOI Listing
February 2006

An autopsy case of caudate nucleus lobulation accompanied with diaphragmatic eventration.

Brain Dev 2006 Jul 20;28(6):401-4. Epub 2005 Dec 20.

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2 Musashi-dai,Fuchu-shi, Tokyo 183-0042, Japan.

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http://dx.doi.org/10.1016/j.braindev.2005.11.006DOI Listing
July 2006

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival.

Brain Dev 2005 Dec;27(8):574-8

Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for SMID, 2-9-2 Musashi-dai, Fuchu-shi, Tokyo 183-0042, Japan.

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http://dx.doi.org/10.1016/j.braindev.2005.02.009DOI Listing
December 2005

Pathological study of bronchospasms/tracheomalasia in patients with severe motor and intellectual disabilities.

Brain Dev 2005 Jan;27(1):70-2

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2, Musashidai, Fuchu-shi, Tokyo 183-0042, Japan.

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http://dx.doi.org/10.1016/j.braindev.2004.04.003DOI Listing
January 2005

Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes.

Am J Med Genet A 2004 Nov;131(1):71-6

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.30294DOI Listing
November 2004

Laryngeal dystonia in a case of severe motor and intellectual disabilities due to Japanese encephalitis sequelae.

Brain Dev 2004 Aug;26(5):335-8

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040300194
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http://dx.doi.org/10.1016/S0387-7604(03)00194-3DOI Listing
August 2004

Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings.

Brain Dev 2004 Jan;26(1):53-6

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.

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http://dx.doi.org/10.1016/s0387-7604(03)00075-5DOI Listing
January 2004

Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly.

Acta Neuropathol 2004 Mar 18;107(3):190-6. Epub 2003 Dec 18.

Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashi-dai, Fuchu-shi, 183-8526 Tokyo, Japan.

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http://link.springer.com/10.1007/s00401-003-0784-0
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http://dx.doi.org/10.1007/s00401-003-0784-0DOI Listing
March 2004

Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome.

J Child Neurol 2003 Jan;18(1):54-7

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.

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http://journals.sagepub.com/doi/10.1177/08830738030180010301
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http://dx.doi.org/10.1177/08830738030180010301DOI Listing
January 2003

Oxidative stress and disturbed glutamate transport in spinal muscular atrophy.

Brain Dev 2002 Dec;24(8):770-5

Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashi-dai, Fuchu-shi, Tokyo 183-8526, Japan.

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http://dx.doi.org/10.1016/s0387-7604(02)00103-1DOI Listing
December 2002

Promyelocytic leukemia protein is redistributed during the formation of intranuclear inclusions independent of polyglutamine expansion: an immunohistochemical study on Marinesco bodies.

J Neuropathol Exp Neurol 2002 Nov;61(11):984-91

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.

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http://dx.doi.org/10.1093/jnen/61.11.984DOI Listing
November 2002