Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

Clinical Genetics

Volumn 82, Issue 3, 2012, Pages 256-263

  Eiberg, H ^a   Hansen, L ^a   Korbo, L ^b   Nielsen, Im ^a   Svenstrup, K ^a,c   Bech, S ^a,b   Pinborg, Lh ^d   Friberg, L ^b   Hjermind, Le ^a,b   Olsen, Or ^e   Nielsen, Je ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b BISPEBJERG HOSPITAL   (Denmark)

^c Memory Disorders Research Group   (Denmark)

^d Rigshospitalet   (Denmark)

^e Medical Centre of Middle Greenland Health Regions   (Greenland)

Author keywords

Ataxia; ATP13A2; Frame shift mutation; Inuit; Kufor Rakeb syndrome; Neuropathy; PARK9

Indexed keywords

DOPAMINE TRANSPORTER; LEUCINE; LEVODOPA; PROTEIN; PROTEIN ATP 13A2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE DURATION; DNA SEQUENCE; EXON; EXTRAPYRAMIDAL SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; KUFOR RAKEB SYNDROME; MALE; MOLECULAR MECHANICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

ADULT; BRAIN; GENOTYPE; GREENLAND; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NONSENSE MEDIATED MRNA DECAY; PARKINSONIAN DISORDERS; PHENOTYPE; PROTON-TRANSLOCATING ATPASES;

PARKINSONIA;

EID: 84865069720     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01745.x     Document Type: Article

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