Early-Onset, Generalized Dystonia Caused by DYT1 Gene on Chromosome 9q34

2015 ◽  
pp. 126-132
Author(s):  
Laurie J. Ozelius ◽  
Susan B. Bressman ◽  
Patricia L. Kramer ◽  
Neil Risch ◽  
Deborah de Leon ◽  
...  
Keyword(s):  
Early Onset ◽  
Chromosome 9Q34 ◽  
Dyt1 Gene ◽  
Generalized Dystonia

Early Onset Generalized Dystonia and Macrocephaly: Glutaric Aciduria Type 1

2017 ◽  
pp. 52-54
Author(s):  
Roberto Erro ◽  
Kailash P. Bhatia ◽  
Kailash P. Bhatia ◽  
Roberto Erro ◽  
Maria Stamelou
Keyword(s):  
Early Onset ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Generalized Dystonia

scholarly journals De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia

1998 ◽  
Vol 7 (7) ◽  
pp. 1133-1136 ◽  
Author(s):  
C. Klein ◽  
M. F. Brin ◽  
D. de Leon ◽  
S. A. Limborska ◽  
I. A. Ivanova-Smolenskaya ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
De Novo Mutations ◽  
Dyt1 Gene

scholarly journals Early onset bipolar disorder: possible linkage to chromosome 9q34

2006 ◽  
Vol 8 (2) ◽  
pp. 144-151 ◽  
Author(s):  
Stephen V Faraone ◽  
Jessica Lasky-Su ◽  
Stephen J Glatt ◽  
Paul Van Eerdewegh ◽  
Ming T Tsuang
Keyword(s):  
Bipolar Disorder ◽  
Early Onset ◽  
Chromosome 9Q34

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

2016 ◽  
Vol 32 (4) ◽  
pp. 549-559 ◽  
Author(s):  
Michael Zech ◽  
Sylvia Boesch ◽  
Angela Jochim ◽  
Sandrina Weber ◽  
Tobias Meindl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Large Scale ◽  
Clinical Exome Sequencing ◽  
Generalized Dystonia

scholarly journals Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

2016 ◽  
Vol 99 (6) ◽  
pp. 1377-1387 ◽  
Author(s):  
Michael Zech ◽  
Sylvia Boesch ◽  
Esther M. Maier ◽  
Ingo Borggraefe ◽  
Katharina Vill ◽  
...  
Keyword(s):  
Early Onset ◽  
Histone Methyltransferase ◽  
Generalized Dystonia

P151 A homozygous THAP1 mutation as cause of early-onset generalized dystonia

Basal Ganglia ◽  
2011 ◽  
Vol 1 (1) ◽  
pp. 36
Author(s):  
K. Lohmann ◽  
A. Ramirez ◽  
F.J. Kaiser ◽  
K. Shafiee ◽  
A. Erogullari ◽  
...  
Keyword(s):  
Early Onset ◽  
Generalized Dystonia
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