Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
about
The Chemical Biology of Human Metallo-β-Lactamase Fold ProteinsThe clinical and genetic heterogeneity of paroxysmal dyskinesias.Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosisPRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Proteome changes in the small intestinal mucosa of broilers (Gallus gallus) induced by high concentrations of atmospheric ammonia.The genetics of dystonias.Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.The genetics of dystonia: new twists in an old tale.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Bioenergetic state regulates innate inflammatory responses through the transcriptional co-repressor CtBPMyofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD.The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.
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P2860
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
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2011 nî lūn-bûn
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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@ast
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@en
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@nl
type
label
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@ast
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@en
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@nl
prefLabel
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@ast
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@en
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@nl
P2093
P2860
P3181
P356
P1476
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
@en
P2093
Hsien-Yang Lee
Joel Rawson
Louis J Ptácek
Sunil Ojha
Yiguo Shen
Ying-Hui Fu
P2860
P304
P3181
P356
10.1093/HMG/DDR125
P407
P577
2011-06-15T00:00:00Z