RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Neurology

Volumn 84, Issue 17, 2015, Pages 1760-1766

  Santens, Patrick ^a   Van Damme, Tim ^a   Steyaert, Wouter ^a   Willaert, Andy ^a   Sablonnière, Bernard ^b   De Paepe, Anne ^a   Coucke, Paul J ^a   Dermaut, Bart ^a,b  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIV LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLUTAMINE; GLYCINE; GONADOTROPIN; PROTEIN; RNF216 PROTEIN; TRYPTOPHAN; UNCLASSIFIED DRUG; RNF216 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; BELGIAN; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM DEGENERATION; CHOREA; CHROMOSOME 7P; CHROMOSOME 7P22.3; CLINICAL GENETICS; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CORRELATIONAL STUDY; DEMENTIA; DISEASE SEVERITY; DYSARTHRIA; FEMALE; FOLLOW UP; GAIT DISORDER; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GONADOTROPIN BLOOD LEVEL; GORDON HOLMES SYNDROME; HOMOZYGOSITY; HUMAN; HUNTINGTON DISEASE LIKE SYNDROME; HYPOGONADOTROPIC HYPOGONADISM; MALE; MIDDLE AGED; MOLECULAR GENETICS; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SANGER SEQUENCING; SEQUENCE ANALYSIS; SIBLING; WHITE MATTER LESION; WHOLE EXOME SEQUENCING; AGED; BELGIUM; BLOOD; CEREBELLUM; CONSANGUINITY; GENETICS; HUNTINGTON CHOREA; MULTIFACTORIAL INHERITANCE; MUTATION; ONSET AGE; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

ADULT; AGE OF ONSET; AGED; BELGIUM; CEREBELLUM; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GONADOTROPINS; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 84929118585     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001521     Document Type: Article

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