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GOSR2: a progressive myoclonus epilepsy gene
Leanne M Dibbens,
Guido Rubboli
9
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Biochemistry, Genetics and Molecular Biology
Vesicular Transporter
100%
Genotyping
100%
Creatine Kinase
100%
Cognition
100%
Golgi Apparatus
100%
Pharmacology, Toxicology and Pharmaceutical Science
Myoclonus
100%
Disease Course
50%
Creatine Kinase
50%
Diseases
50%
Rare Disease
50%
Scoliosis
50%
Clinical Feature
50%
Ataxia
50%
Keyphrases
Epilepsy Genetics
100%
Myoclonus
33%
Genotype
16%
Seizure
16%
Elevated Creatine Kinase
16%
Rare Diseases
16%
Disease Stage
16%
Cognitive Function
16%
Homozygous mutation
16%
Areflexia
16%
Transporter Genes
16%
Vesicular Transport
16%
Patient's Will
16%
Scoliosis
16%
Golgi-derived Vesicles
16%
Functional Impact
16%
Clinical Features
16%
Disease Course
16%
Cis-Golgi
16%
Loss Function
16%
Neuroscience
Myoclonus
100%
Cognitive Function
33%
Ataxia
33%
Creatine Kinase
33%
Vesicular Transporter
33%
Immunology and Microbiology
Transport Vesicle
100%
Cognition
100%