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

scholarly journals Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma

2003 ◽  
Vol 2 (1) ◽  
pp. 88-92 ◽  
Author(s):  
Peilin Zhang ◽  
Kunjan S. Bhakta ◽  
Pier Lorenzo Puri ◽  
Robert Newbury ◽  
James Feramisco ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ataxia Telangiectasia ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene

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

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

scholarly journals 1853P The estimated cancer risks associated with being a carrier for an ATM gene mutation among UK Biobank population

2021 ◽  
Vol 32 ◽  
pp. S1248
Author(s):  
P. Kamnerdsupaphon ◽  
M. Weedon
Keyword(s):  
Gene Mutation ◽  
Uk Biobank ◽  
Cancer Risks ◽  
Atm Gene

scholarly journals Ataxia‑telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report

2018 ◽  
Author(s):  
Fanghua Ye ◽  
Wenwen Chai ◽  
Minghua Yang ◽  
Min Xie ◽  
Liangchun Yang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Ataxia Telangiectasia ◽  
Atm Gene

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

scholarly journals Deleterious ATM Gene Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Gene Mutation ◽  
Atm Gene

scholarly journals ATM Gene Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Gene Mutation ◽  
Atm Gene

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
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