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Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
Poulton, Cathryn; Oegema, Renske; Heijsman, Daphne; Hoogeboom, Jeannette; Schot, Rachel; Stroink, Hans; Willemsen, Michèl A; Verheijen, Frans W; van de Spek, Peter; Kremer, Andreas; Mancini, Grazia M S.
Affiliation
  • Poulton C; Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands.
Neurogenetics ; 14(1): 43-51, 2013 Feb.
Article in En | MEDLINE | ID: mdl-23224214
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / Spinocerebellar Degenerations / Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / Mutation Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2013 Document type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / Spinocerebellar Degenerations / Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / Mutation Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2013 Document type: Article Affiliation country: Netherlands