A DYNC1H1 MUTATION IN AUTOSOMAL DOMINANT SPINAL MUSCULAR ATROPHY SHOWS THE POTENTIAL OF PHARMACOLOGICAL INHIBITION OF HISTONE DEACETYLASE 6 AS A TREATMENT FOR DISEASE ASSOCIATED CELLULAR PHENOTYPES

被引：0

作者：

Green, R. L. ^{[1
]}

Simoes, F. A. ^{[1
,2
]}

Reyes-Aldasoro, C. C. ^{[3
]}

Rossor, A. M. ^{[6
]}

Scoto, M. ^{[5
]}

Barri, M. ^{[1
]}

Greensmith, L. ^{[4
,6
]}

Muntoni, F. ^{[5
,6
]}

Reilly, M. M. ^{[6
]}

Hafezparast, M. ^{[1
]}

机构：

[1] Univ Sussex, Sch Life Sci, Neurosci Ctr, Brighton, E Sussex, England

[2] Univ Sussex, Brighton & Sussex Med Sch, Med Res Bldg, Brighton, E Sussex, England

[3] City Univ London, Tait Bldg,Northampton Sq, London, England

[4] Sobell Dept Motor Neurosci & Movement Disorders, Queen Sq, London, England

[5] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[6] UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2016年 / 21卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：261 / 262

页数：2

共 17 条

[1] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
Tsurusaki, Yoshinori
Saitoh, Shinji
Tomizawa, Kazuhiro
Sudo, Akira
Asahina, Naoko
Shiraishi, Hideaki
Ito, Jun-ichi
Tanaka, Hajime
Doi, Hiroshi
Saitsu, Hirotomo
Miyake, Noriko
Matsumoto, Naomichi
NEUROGENETICS, 2012, 13 (04) : 327 - 332
[2] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
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Shinji Saitoh
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Akira Sudo
Naoko Asahina
Hideaki Shiraishi
Jun-ichi Ito
Hajime Tanaka
Hiroshi Doi
Hirotomo Saitsu
Noriko Miyake
Naomichi Matsumoto
neurogenetics, 2012, 13 : 327 - 332
[3] A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant
Das, Joyutpal
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Jabbal, Kavaldeep
Ealing, John
NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2018, 52 (02) : 293 - 297
[4] Mutations in the Tail Domain of DYNC1H1 Cause Dominant Spinal Muscular Atrophy
Baloh, Robert
Harms, Matthew
Ori-McKenney, Kassandra
Scoto, Mariacristina
Tuck, Elizabeth
Bell, Shaughn
Ma, Duanduan
Masi, Sophia
Allred, Peggy
Al-Lozi, Muhammad
Reilly, Mary
Miller, Lindsey
Jani-Acsadi, Agnes
Pestronk, Alan
Shy, Michael
Muntoni, Francesco
Vallee, Richard
NEUROLOGY, 2012, 78
[5] Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Harms, M. B.
Ori-McKenney, K. M.
Scoto, M.
Tuck, E. P.
Bell, S.
Ma, D.
Masi, S.
Allred, P.
Al-Lozi, M.
Reilly, M. M.
Miller, L. J.
Jani-Acsadi, A.
Pestronk, A.
Shy, M. E.
Muntoni, F.
Vallee, R. B.
Baloh, R. H.
NEUROLOGY, 2012, 78 (22) : 1714 - 1720
[6] DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems
Perrone, A. L. Fernandez
Fernandez, P. Moreno
Alvarez, S.
Fernandez-Jaen, A.
NEUROLOGIA, 2022, 37 (05): : 406 - 409
[7] A NOVEL DYNC1H1 MUTATION CAUSING SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE
Niu, Qi
Wang, Xingxia
Shi, Mingchao
Jin, Qingwen
NEUROLOGY-GENETICS, 2015, 1 (02)
[8] Pedigree analysis of DYNC1H1 p. P776L mutation in a family with spinal muscular atrophy
王晓娟
China Medical Abstracts(Internal Medicine), 2019, 36 (01) : 61 - 62
[9] Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Punetha, Jaya
Monges, Soledad
Emilia Franchi, Maria
Hoffman, Eric P.
Cirak, Sebahattin
Tesi-Rocha, Carolina
PEDIATRIC NEUROLOGY, 2015, 52 (02) : 239 - 244
[10] Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development
Chen, Yulin
Xu, Yufei
Li, Guoqiang
Li, Niu
Yu, Tingting
Yao, Ru-en
Wang, Xiumin
Shen, Yiping
Wang, Jian
JOURNAL OF CHILD NEUROLOGY, 2017, 32 (04) : 379 - 386

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