Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 248-256

  Hartig, Monika B ^a   Hörtnagel, Konstanze ^a   Garavaglia, Barbara ^b   Zorzi, Giovanna ^b   Kmiec, Tomasz ^c   Klopstock, Thomas ^d   Rostasy, Kevin ^e   Svetel, Marina ^f   Kostic, Vladimir S ^f   Schuelke, Markus ^g   Botz, Evelyn ^a   Weindl, Adolf ^h   Novakovic, Ivana ^f   Nardocci, Nardo ^b   Prokisch, Holger ^a,h   Meitinger, Thomas ^a,h  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f UNIVERSITY OF BELGRADE   (Serbia)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PANTOTHENATE KINASE;

ADULT; ALLELE; ARTICLE; BASAL GANGLION; BRAIN TISSUE; DISEASE COURSE; DRUG ACCUMULATION; ENZYME ACTIVITY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE DEGENERATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PANK2 GENE; POINT MUTATION; PRIORITY JOURNAL; SCREENING;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; ANIMALS; BASAL GANGLIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EVOLUTION; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC HETEROGENEITY; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT; STATISTICS; TIME FACTORS;

EID: 32044455822     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20771     Document Type: Article

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