A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia

2021 ◽  
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Miriama Ostrozovicova ◽  
Robert Jech ◽  
Dora Steel ◽  
Petra Pavelekova ◽  
Vladimir Han ◽  
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Keyword(s):  
Early Onset ◽  
Generalized Dystonia

Early Onset Generalized Dystonia and Macrocephaly: Glutaric Aciduria Type 1

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Kailash P. Bhatia ◽  
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Roberto Erro ◽  
Maria Stamelou
Keyword(s):  
Early Onset ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Generalized Dystonia

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 ◽  
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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 ◽  
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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 ◽  
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Keyword(s):  
Early Onset ◽  
Generalized Dystonia

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant

2018 ◽  
Vol 50 ◽  
pp. 124-125 ◽  
Author(s):  
Dallah Yoo ◽  
Han-Joon Kim ◽  
Jin Sook Lee ◽  
Sangmoon Lee ◽  
Soo Yeon Kim ◽  
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Keyword(s):  
Early Onset ◽  
Lower Extremities ◽  
Generalized Dystonia

scholarly journals EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

2020 ◽  
Author(s):  
Demy J. S. Kuipers ◽  
Wim Mandemakers ◽  
Chin‐Song Lu ◽  
Simone Olgiati ◽  
Guido J. Breedveld ◽  
...  
Keyword(s):  
Early Onset ◽  
Missense Variants ◽  
Generalized Dystonia
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