Progressive cerebellar atrophy and polyneuropathy: Expanding the spectrum of PNKP mutations

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 43-51

  Poulton, Cathryn ^a   Oegema, Renske ^a   Heijsman, Daphne ^a   Hoogeboom, Jeannette ^a   Schot, Rachel ^a   Stroink, Hans ^b   Willemsen, Michèl A ^c   Verheijen, Frans W ^a   Van De Spek, Peter ^a   Kremer, Andreas ^a   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebellar atrophy; DNA repair; MCSZ syndrome; Microcephaly; PNKP; Polyneuropathy

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DNA REPAIR; ELECTROMYOGRAM; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; MICROCEPHALY; MICROCEPHALY SEIZURE AND DEVELOPMENTAL DELAY; NUCLEAR MAGNETIC RESONANCE IMAGING; PNKP GENE; POLYNEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST;

ADOLESCENT; CEREBELLUM; CHILD; CONSANGUINITY; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; FOLLOW-UP STUDIES; HUMANS; MALE; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYNEUROPATHIES; SIBLINGS; SPINOCEREBELLAR DEGENERATIONS;

EID: 84873720231     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0351-8     Document Type: Article

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