MIURA SHIROH 三浦史郎

… Alternative Names

三浦史郎ミウラシロウ

SHIROH MIURA 三浦史郎

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Researcher Number	00441650
Affiliation (Current)	2025: 愛媛大学, 医学系研究科, 講師
Affiliation (based on the past Project Information) *help	2023: 愛媛大学, 医学系研究科, 講師 2014 – 2016: 久留米大学, 医学部, 講師
Review Section/Research Field	Principal Investigator Basic Section 52010:General internal medicine-related / Human genetics
Keywords	Principal Investigator 遺伝性疾患 / PAX6 / RDH11 / 痙性対麻痺 / 筋萎縮症 / 先天性白内障 / 網膜色素変性症 / non coding RNA / 連鎖解析 / エクソーム / 遺伝性ニューロパチー / IQGAP3

眼症状を伴う遺伝性神経筋疾患の新規疾患単位の確立Principal Investigator
- Principal Investigator
  
  三浦史郎
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52010:General internal medicine-related
- Research Institution
  Ehime University
Genetic analysis of novel hereditary neuropathy mapping to chromosome 1Principal Investigator
- Principal Investigator
  
  SHIROH MIURA
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Kurume University

All 2023 2016 2015 2014

All Journal Article Presentation

[Journal Article] Essential Tremor with Aspartic Acidemia2016
- Author(s)
  Miura S, Fujioka R, Taniwaki T.
- Journal Title
  
  The Kurume Medical Journal
  
  Volume: 63 Issue: 3.4 Pages: 81-84
- DOI
  10.2739/kurumemedj.MS00015
- NAID
  130005661600
- ISSN
  0023-5679, 1881-2090
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26460411, KAKENHI-PROJECT-15K09365
[Journal Article] A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia2016
- Author(s)
  Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 59 Issue: 8 Pages: 413-416
- DOI
  10.1016/j.ejmg.2016.05.010
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26460411, KAKENHI-PROJECT-15K09365
[Journal Article] 片側体幹感覚障害を認めた中心後回梗塞2016
- Author(s)
  三浦史郎、内山雄介、佐野謙、植田晋一郎、谷脇考恭
- Journal Title
  
  神経内科
  
  Volume: 84 Pages: 105-107
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26460411
[Journal Article] First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene2015
- Author(s)
  Kida Hiroshi, Ken Sano, Akiko Yorita, Shiro Miura, Mitsuyoshi Ayabe, Yukiko Hayashi, Ichizo Nishino, Takayuki Taniwaki
- Journal Title
  
  Neurology and Clinical Neuroscience
  
  Volume: 3 Issue: 4 Pages: 150-152
- DOI
  10.1111/ncn3.175
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09365, KAKENHI-PROJECT-26460411
[Journal Article] Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.2015
- Author(s)
  Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, Williams A, Santiago-Turla C, Qin X, Rautenbach RM, Ziskind A, Ramsay M, Uebe S, Song L, Safi A, Vithana EN, et al
- Journal Title
  
  Hum Mol Genet
  
  Volume: 24 Issue: 22 Pages: 6552-6563
- DOI
  10.1093/hmg/ddv347
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26460411
[Journal Article] A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia.2015
- Author(s)
  K. Sano, S. Miura, T. Fujiwara, R. Fujioka, A. Yorita, K. Noda, H. Kida, K. Azuma, S. Kaieda, K. Yamamoto, T. Taniwaki, Y. Fukumaki, and H. Shibata
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 356 Issue: 1-2 Pages: 142-147
- DOI
  10.1016/j.jns.2015.06.035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K05577, KAKENHI-PROJECT-15K09365, KAKENHI-PROJECT-26460411
[Presentation] RDH11の新規ナンセンス変異を持つ神経および筋肉症状を併発する家族性網膜色素変性症2023
- Author(s)
  比留木成美、三浦史郎、藤下幸穂、柴田弘紀
- Organizer
  第46回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-23K06853
[Presentation] 先天性白内障を伴う痙性対麻痺家系における責任遺伝子変異の探索2023
- Author(s)
  渡邊笑奈、三浦史郎、比留木成美、孫崟瑞、柴田弘紀
- Organizer
  日本遺伝学会第95回大会
- Data Source
  KAKENHI-PROJECT-23K06853
[Presentation] Homozygous 4-bp deletion in the DDHD1 gene, resulting the complete deletion of DDHD domain, as a causative variant in a SPG28 patient2016
- Author(s)
  Morikawa T, Miura S, Yamada K, Hattori G, Kosaka K, Fujioka R, Motomura M, Taniwaki T, Shibata H.
- Organizer
  International Congress of Human Genetics 2016
- Place of Presentation
  Kyoto
- Year and Date
  2016-04-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26460411
[Presentation] A missense mutation in the PPIG gene encoding the peptidyl-prolyl isomerase G in patients with autosomal dominant benign adult familial myoclonic epilepsy2016
- Author(s)
  Fujioka R, Miura S, Yamada K, Morikawa T, Motooka H, Uchiyama Y, Aso Y, Kimura N, Sano K, Yamamoto K, Taniwaki T, Shibata H.
- Organizer
  American Society of Human Genetics Annual Meeting 2016
- Place of Presentation
  Vancouver
- Year and Date
  2016-10-19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26460411
[Presentation] Heterozygous missense mutation in SEC24A encoding a coat protein complex II vesicle associated with autosomal dominant spinocerebellar ataxia2016
- Author(s)
  Morikawa T, Miura S, Kosaka K, Fujioka R, Sano K, Yorita A, Aoki K, Uchiyama Y, Taniwaki T, Shibata H.
- Organizer
  American Society of Human Genetics Annual Meeting 2016
- Place of Presentation
  Vancouver
- Year and Date
  2016-10-21
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26460411
[Presentation] Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough maps to chromosome 1p13.3-1q23.2015
- Author(s)
  Miura S, Sano K, Kosaka K, Fujioka R, Saitsu H, Taniwaki T, Yamamoto K, Shibata H
- Organizer
  American Society of Human Genetics Annual Meeting 2015
- Place of Presentation
  Baltimore, MD, USA
- Year and Date
  2015-10-09
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26460411
[Presentation] Genetic analysis for benign adult familial myoclonic epilepsy using linkage-assisted exome sequencing.2014
- Author(s)
  Yamada K, Miura S, et al.
- Organizer
  第37回　日本分子生物学会年会
- Place of Presentation
  横浜
- Year and Date
  2014-11-26
- Data Source
  KAKENHI-PROJECT-26460411
[Presentation] A novel missense mutation of ryanodine receptor 1 (RYR1) in a Japanese idiopathic hyper CK-emia family.2014
- Author(s)
  Sano K, Miura S, et al.
- Organizer
  American Society Human Genetics Annual Meeting 2014
- Place of Presentation
  San Diego
- Year and Date
  2014-10-19
- Data Source
  KAKENHI-PROJECT-26460411

1. 柴田弘紀 (80315093)

# of Collaborated Projects: 2 results

# of Collaborated Products: 7 results
2. 谷脇考恭

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. 山本健

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MIURA SHIROH 三浦 史郎

三浦 史郎 ミウラ シロウ

SHIROH MIURA 三浦 史郎

Research Projects

Research Products

Co-Researchers

眼症状を伴う遺伝性神経筋疾患の新規疾患単位の確立Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Genetic analysis of novel hereditary neuropathy mapping to chromosome 1Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Essential Tremor with Aspartic Acidemia2016

Author(s)

Journal Title

DOI

NAID

ISSN

Language

Data Source

[Journal Article] A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 片側体幹感覚障害を認めた中心後回梗塞2016

Author(s)

Journal Title

Data Source

[Journal Article] First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia.2015

Author(s)

Journal Title

DOI

Data Source

[Presentation] RDH11の新規ナンセンス変異を持つ神経および筋肉症状を併発する家族性網膜色素変性症2023

Author(s)

Organizer

Data Source

[Presentation] 先天性白内障を伴う痙性対麻痺家系における責任遺伝子変異の探索2023

Author(s)

Organizer

Data Source

[Presentation] Homozygous 4-bp deletion in the DDHD1 gene, resulting the complete deletion of DDHD domain, as a causative variant in a SPG28 patient2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] A missense mutation in the PPIG gene encoding the peptidyl-prolyl isomerase G in patients with autosomal dominant benign adult familial myoclonic epilepsy2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] Heterozygous missense mutation in SEC24A encoding a coat protein complex II vesicle associated with autosomal dominant spinocerebellar ataxia2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough maps to chromosome 1p13.3-1q23.2015

Author(s)

Organizer

Place of Presentation

MIURA SHIROH 三浦史郎

三浦史郎ミウラシロウ

SHIROH MIURA 三浦史郎