Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

New England Journal of Medicine

Volumn 368, Issue 21, 2013, Pages 1992-2003

  Margolin, David H ^a   Kousi, Maria ^e   Chan, Yee Ming ^a,b   Lim, Elaine T ^a   Schmahmann, Jeremy D ^a   Hadjivassiliou, Marios ^f   Hall, Janet E ^a   Adam, Ibrahim ^g   Dwyer, Andrew ^a   Plummer, Lacey ^a   Aldrin, Stephanie V ^a   O'Rourke, Julia ^a   Kirby, Andrew ^a   Lage, Kasper ^a,h,i   Milunsky, Aubrey ^d   Milunsky, Jeff M ^d   Chan, Jennifer ^c   Hedley Whyte, E Tessa ^a   Daly, Mark J ^a   Katsanis, Nicholas ^e   Seminara, Stephanie B ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d Center for Human Genetic Research   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^g Specialty Hospital Amman   (Jordan)

^h TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

ⁱ UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN; MESSENGER RNA;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; BRAIN MALFORMATION; CELL INCLUSION; CELL SURVIVAL; CEREBELLUM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEMENTIA; DRUG DOSE ESCALATION; DRUG MEGADOSE; EMBRYO; EPISTASIS; EXOME; EYE MALFORMATION; FEMALE; GENE MUTATION; GENE REPRESSION; GENE SEQUENCE; GENE SILENCING; HETEROZYGOSITY; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS; HYPOTHALAMUS; MALE; MUTANT; NERVE CELL DEGENERATION; NONHUMAN; NUCLEOTIDE SEQUENCE; OTUD4 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNF216 GENE; SIBLING; SUPERIOR COLLICULUS; UBIQUITINATION; ZEBRA FISH;

EID: 84877935385     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1215993     Document Type: Article

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