Eriko Koshimizu

Eriko Koshimizu

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Eriko Koshimizu

Eriko Koshimizu

Publications by authors named "Eriko Koshimizu"

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36Publications

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A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.

Neuropediatrics 2019 12 4;50(6):391-394. Epub 2019 Sep 4.

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1694973
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http://dx.doi.org/10.1055/s-0039-1694973DOI Listing
December 2019

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

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

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

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

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

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

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

Embryonic senescence and laminopathies in a progeroid zebrafish model.

PLoS One 2011 Mar 30;6(3):e17688. Epub 2011 Mar 30.

Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017688PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068137PMC
March 2011

Construction of a genetic map and development of DNA markers linked to the sex-determining locus in the Patagonian pejerrey (Odontesthes hatcheri).

Mar Biotechnol (NY) 2010 Feb 19;12(1):8-13. Epub 2009 May 19.

Graduate School of Marine Science and Technology, Tokyo University of Marine Science and Technology, 4-5-7 Konan, Minato, Tokyo 108-8477, Japan.

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http://dx.doi.org/10.1007/s10126-009-9194-1DOI Listing
February 2010

Permanent Genetic Resources added to Molecular Ecology Resources Database 1 May 2009-31 July 2009.

Authors:
Glenn R Almany Maurício P DE Arruda Wolfgang Arthofer Z K Atallah Steven R Beissinger Michael L Berumen S M Bogdanowicz S D Brown Michael W Bruford C Burdine Jeremiah W Busch Nathan R Campbell D Carey Bryan C Carstens K H Chu Marc A Cubeta J P Cuda Zhaoxia Cui L E Datnoff J A Dávila Emily S Davis R M Davis Onno E Diekmann Eduardo Eizirik J A Fargallo Fabiano Fernandes Hideo Fukuda L R Gale Elizabeth Gallagher Yongqiang Gao Philippe Girard Anna Godhe Evonnildo C Gonçalves Licinia Gouveia Amber M Grajczyk M J Grose Zhifeng Gu Christer Halldén Karolina Härnström Amanda H Hemmingsen Gerald Holmes C H Huang Chuan-Chin Huang S P Hudman Geoffrey P Jones Loukas Kanetis Iddya Karunasagar Indrani Karunasagar Nusha Keyghobadi S J Klosterman Page E Klug J Koch Margaret M Koopman Kirsten Köppler Eriko Koshimizu Susanne Krumböck T Kubisiak J B Landis Mario L Lasta Chow-Yang Lee Qianqian Li Shou-Hsien Li Rong-Chien Lin M Liu Na Liu W C Liu Yuan Liu A Loiseau Weisha Luan K K Maruthachalam Helen M McCormick Rohan Mellick P J Monnahan Eliana Morielle-Versute Tomás E Murray Shawn R Narum Katie Neufeld P J G De Nova Peter S Ojiambo Nobuaki Okamoto Ahmad Sofiman Othman W A Overholt Renata Pardini Ian G Paterson Olivia A Patty Robert J Paxton Serge Planes Carolyn Porter Morgan S Pratchett Thomas Püttker Gordana Rasic Bilal Rasool O Rey Markus Riegler C Riehl John M K Roberts P D Roberts Elisabeth Rochel Kevin J Roe Maurizio Rossetto Daniel E Ruzzante Takashi Sakamoto V Saravanan Cladinara Roberts Sarturi Anke Schmidt Maria Paula Cruz Schneider Hannes Schuler Jeanne M Serb Ester T A Serrão Yaohua Shi Artur Silva Y W Sin Simone Sommer Christian Stauffer Carlos Augusto Strüssmann K V Subbarao Craig Syms Feng Tan Eugenio Daniel Tejedor Simon R Thorrold Robert N Trigiano María I Trucco Mirian Tieko Nunes Tsuchiya-Jerep P Vergara Mirjam S Van De Vliet Phillip A Wadl Aimin Wang Hongxia Wang R X Wang Xinwang Wang Yan Wang Andrew R Weeks Fuwen Wei William J Werner E O Wiley D A Williams Richard J Wilkins Samantha M Wisely Kimberly A With Danhua Wu Cheng-Te Yao Cynthia Yau Beng-Keok Yeap Bao-Ping Zhai Xiangjiang Zhan Guo-Yan Zhang S Y Zhang Ru Zhao Lifeng Zhu

Mol Ecol Resour 2009 Nov 29;9(6):1460-6. Epub 2009 Sep 29.

Molecular Ecology Resources Editorial Office, 6270 University Blvd, Vancouver, BC, V6T 1Z4, Canada.

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http://dx.doi.org/10.1111/j.1755-0998.2009.02759.xDOI Listing
November 2009

The identification of zebrafish mutants showing alterations in senescence-associated biomarkers.

PLoS Genet 2008 Aug 15;4(8):e1000152. Epub 2008 Aug 15.

Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2515337PMC
August 2008