Satoko Miyatake

Satoko Miyatake

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Satoko Miyatake

Satoko Miyatake

Publications by authors named "Satoko Miyatake"

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Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.

J Hum Genet 2020 Feb 18. Epub 2020 Feb 18.

Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-020-0733-yDOI Listing
February 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

J Hum Genet 2019 Nov 13;64(11):1107-1116. Epub 2019 Aug 13.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-019-0654-9DOI Listing
November 2019

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.

Epilepsy Res 2019 Sep 3;155:106149. Epub 2019 Jun 3.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2019.06.001DOI Listing
September 2019

A novel de novo frameshift variant in SETD1B causes epilepsy.

J Hum Genet 2019 Aug 20;64(8):821-827. Epub 2019 May 20.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://www.nature.com/articles/s10038-019-0617-1
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http://dx.doi.org/10.1038/s10038-019-0617-1DOI Listing
August 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 07 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

A Japanese patient with RAD51-associated Fanconi anemia.

Am J Med Genet A 2019 06 25;179(6):900-902. Epub 2019 Mar 25.

Department of Pediatrics, University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61130DOI Listing
June 2019

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Neuropediatrics 2019 04 29;50(2):126-129. Epub 2019 Jan 29.

Departments of Pediatrics, Seirei-Mikatahara General Hospital, Shizuoka, Japan.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677869
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http://dx.doi.org/10.1055/s-0039-1677869DOI Listing
April 2019

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Neurol Genet 2019 Apr 25;5(2):e319. Epub 2019 Mar 25.

Department of Pediatrics (Y.N., K. Hirohata, R.I., A.O.), Graduate School of Medicine, The University of Tokyo; Department of Human Genetics (K. Hamanaka, S.M., N.M.), Graduate School of Medicine, Yokohama City University; Department of Pediatrics (M.M.), School of Medicine, Teikyo University, Tokyo; and Department of Pediatrics (H.S.), Graduate School of Medicine, Osaka City University, Osaka, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308PMC
April 2019

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

J Hum Genet 2019 Mar 17;64(3):191-197. Epub 2018 Dec 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-018-0551-7DOI Listing
March 2019

SOFT syndrome in a patient from Chile.

Am J Med Genet A 2019 03 20;179(3):338-340. Epub 2018 Dec 20.

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

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http://doi.wiley.com/10.1002/ajmg.a.61015
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http://dx.doi.org/10.1002/ajmg.a.61015DOI Listing
March 2019

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Genome Biol 2019 03 19;20(1):58. Epub 2019 Mar 19.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1186/s13059-019-1667-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425644PMC
March 2019

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Seizure 2019 Feb 18;65:118-123. Epub 2019 Jan 18.

National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka-shi, Shizuoka, 420-8688, Japan.

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http://dx.doi.org/10.1016/j.seizure.2019.01.009DOI Listing
February 2019

A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.

Brain Dev 2019 Jan 1;41(1):101-105. Epub 2018 Aug 1.

Department of Pediatrics, Gifu Prefectural General Medical Center, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.07.011DOI Listing
January 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

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

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.

Cerebellum 2018 Oct;17(5):525-530

Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

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http://dx.doi.org/10.1007/s12311-018-0941-6DOI Listing
October 2018

A novel SLC9A1 mutation causes cerebellar ataxia.

J Hum Genet 2018 Oct 17;63(10):1049-1054. Epub 2018 Jul 17.

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

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http://www.nature.com/articles/s10038-018-0488-x
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http://dx.doi.org/10.1038/s10038-018-0488-xDOI Listing
October 2018

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 07 30;84(1):159-161. Epub 2018 Jul 30.

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

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http://dx.doi.org/10.1002/ana.25256DOI Listing
July 2018

PEX10-related autosomal recessive cerebellar ataxia with hearing loss.

Acta Neurol Belg 2018 Jul 19. Epub 2018 Jul 19.

Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

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http://dx.doi.org/10.1007/s13760-018-0987-8DOI Listing
July 2018

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

J Hum Genet 2018 May 28;63(5):673-676. Epub 2018 Feb 28.

Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://www.nature.com/articles/s10038-018-0421-3
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http://dx.doi.org/10.1038/s10038-018-0421-3DOI Listing
May 2018

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0404-9DOI Listing
April 2018

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

J Hum Genet 2018 Apr 13;63(4):425-430. Epub 2018 Feb 13.

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

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http://dx.doi.org/10.1038/s10038-018-0410-6DOI Listing
April 2018

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

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

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

A novel mutation in SLC1A3 causes episodic ataxia.

J Hum Genet 2018 Feb 5;63(2):207-211. Epub 2017 Dec 5.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0365-zDOI Listing
February 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

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

J Hum Genet 2017 Nov 20;62(11):997-1000. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/jhg.2017.77DOI Listing
November 2017

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Eur J Med Genet 2017 Mar 23;60(3):169-171. Epub 2016 Dec 23.

Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.12.008DOI Listing
March 2017

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Am J Med Genet A 2016 10 5;170(10):2662-70. Epub 2016 Jun 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37778DOI Listing
October 2016

WDR45 mutations in three male patients with West syndrome.

J Hum Genet 2016 Jul 31;61(7):653-61. Epub 2016 Mar 31.

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

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http://dx.doi.org/10.1038/jhg.2016.27DOI Listing
July 2016

Vein of Galen Aneurysmal Malformation in Monozygotic Twin.

World Neurosurg 2016 Jul 19;91:672.e11-5. Epub 2016 Apr 19.

Department of Neonatology, Osaka City General Hospital, Osaka, Japan.

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http://dx.doi.org/10.1016/j.wneu.2016.04.031DOI Listing
July 2016

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

J Hum Genet 2016 Jun 18;61(6):527-31. Epub 2016 Feb 18.

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

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http://dx.doi.org/10.1038/jhg.2016.9DOI Listing
June 2016

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

Hum Genome Var 2015 26;2:15012. Epub 2015 Mar 26.

Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University , Yokohama, Japan.

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http://dx.doi.org/10.1038/hgv.2015.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785587PMC
April 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

J Neurol Neurosurg Psychiatry 2016 Feb 20;87(2):212-6. Epub 2015 May 20.

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

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http://jnnp.bmj.com/content/87/2/212.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-310084
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http://dx.doi.org/10.1136/jnnp-2014-310084DOI Listing
February 2016

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Epilepsia 2016 Jan 27;57(1):e18-23. Epub 2015 Nov 27.

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

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http://dx.doi.org/10.1111/epi.13257DOI Listing
January 2016

Genetics: Clinical exome sequencing in neurology practice.

Nat Rev Neurol 2014 Dec 4;10(12):676-8. Epub 2014 Nov 4.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.

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http://dx.doi.org/10.1038/nrneurol.2014.213DOI Listing
December 2014

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

J Hum Genet 2014 Oct 11;59(10):589-90. Epub 2014 Sep 11.

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

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http://dx.doi.org/10.1038/jhg.2014.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521292PMC
October 2014

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Neuromuscul Disord 2014 Jul 24;24(7):642-7. Epub 2014 Apr 24.

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

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http://dx.doi.org/10.1016/j.nmd.2014.04.002DOI Listing
July 2014

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Neurology 2014 Jun 21;82(24):2230-7. Epub 2014 May 21.

From the Departments of Human Genetics (S.M., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000000535DOI Listing
June 2014