Angelman syndrome-insights into a rare neurogenetic disorder

Nature Reviews Neurology

Volumn 12, Issue 10, 2016, Pages 584-593

  Buiting, Karin ^a   Williams, Charles ^b   Horsthemke, Bernhard ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA5; 4 AMINOBUTYRIC ACID A RECEPTOR BETA3; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA3; ANTIDEPRESSANT AGENT; ANTISENSE OLIGONUCLEOTIDE; ARC PROTEIN; ECT2 PROTEIN; EPHEXIN 5; HR23A PROTEIN; MELANOCORTIN 1 RECEPTOR; NEUROLEPTIC AGENT; PROTEIN P27; PROTEIN P53; TOPOTECAN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ALLELE; ANTICONVULSANT THERAPY; ANTISENSE THERAPY; BRACE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DIFFUSION TENSOR IMAGING; DISEASE COURSE; DNA METHYLATION; EXON; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HAPPY PUPPET SYNDROME; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MICROARRAY ANALYSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLIATIVE THERAPY; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; RECEPTOR GENE; RECURRENCE RISK; RETT SYNDROME; REVIEW; UBE3A GENE; UBIQUITINATION; UNIPARENTAL DISOMY; WILSON DISEASE; ANIMAL; DEFICIENCY; GENETICS; PATHOPHYSIOLOGY;

ANGELMAN SYNDROME; ANIMALS; HUMANS; UBIQUITIN-PROTEIN LIGASES;

EID: 84989233348     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2016.133     Document Type: Review

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