NovelSGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

2007 ◽  
Vol 22 (8) ◽  
pp. 1206-1207 ◽  
Author(s):  
Eun Joo Chung ◽  
Won Yong Lee ◽  
Ji-Youn Kim ◽  
Jong-Hun Kim ◽  
Gyeong-Moon Kim ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Moya Moya Disease ◽  
Myoclonus Dystonia

Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms

Gene ◽  
2014 ◽  
Vol 548 (2) ◽  
pp. 306-307 ◽  
Author(s):  
Mohamad T. Akbari ◽  
Reza Mirfakhraie ◽  
Shohreh Zare-Karizi ◽  
Gholamali Shahidi
Keyword(s):  
Gene Mutation ◽  
Clinical Symptoms ◽  
Myoclonus Dystonia

scholarly journals Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

2020 ◽  
Vol 34 (1) ◽  
pp. 94
Author(s):  
Yong Hoon Kim ◽  
Kwang Sic Joo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Se Joon Woo
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Bardet Biedl Syndrome ◽  
Korean Patient

scholarly journals Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy

2019 ◽  
Vol 12 (1) ◽  
pp. 63-65 ◽  
Author(s):  
So Hoon Yoon ◽  
Nan Young Kim ◽  
Yun Joong Kim ◽  
Chul Hyoung Lyoo
Keyword(s):  
Gene Mutation ◽  
Light Chain ◽  
Chain Gene ◽  
Light Chain Gene ◽  
Korean Patient

Myoclonus‐dystonia presentation of ATM gene mutation in a Canadian Mennonite

2021 ◽  
Author(s):  
Jacky Ganguly ◽  
Mellany Tuesta Bernaola ◽  
Sharan Goobie ◽  
Asuri Prasad ◽  
Mandar Jog
Keyword(s):  
Gene Mutation ◽  
Atm Gene ◽  
Myoclonus Dystonia

A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype

2011 ◽  
Vol 101 (2) ◽  
pp. e90-e92 ◽  
Author(s):  
Kristina Tedroff ◽  
Arndt Rolfs ◽  
Andreas Norling
Keyword(s):  
Gene Mutation ◽  
Myoclonus Dystonia ◽  
Unusual Phenotype

Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation

2017 ◽  
Vol 42 ◽  
pp. 73-77 ◽  
Author(s):  
Ji-Young Kim ◽  
Woong-Woo Lee ◽  
Chae Won Shin ◽  
Han-Joon Kim ◽  
Sung-Sup Park ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Psychiatric Symptoms ◽  
Myoclonus Dystonia

Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity

2010 ◽  
Vol 25 (7) ◽  
pp. 956-957 ◽  
Author(s):  
Sui H. Wong ◽  
Malcolm J. Steiger ◽  
Andrew J. Larner ◽  
Nicholas A. Fletcher
Keyword(s):  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Myoclonus Dystonia

scholarly journals A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

2014 ◽  
Vol 24 (4) ◽  
pp. 491-493 ◽  
Author(s):  
Yuka Ohguchi ◽  
Toshifumi Nomura ◽  
Shotaro Suzuki ◽  
Osamu Mizuno ◽  
Yukiko Nomura ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Ichthyosis Vulgaris
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