P Nokelainen

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint A patient with 2 different repeat expansion mutations
    P Nokelainen
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, England
    Arch Neurol 57:1199-203. 2000
  2. ncbi request reprint Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?
    P Nokelainen
    Institute of Molecular Medicine, Department of Molecular Haematology, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom
    Am J Med Genet 103:198-206. 2001

Collaborators

Detail Information

Publications2

  1. ncbi request reprint A patient with 2 different repeat expansion mutations
    P Nokelainen
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, England
    Arch Neurol 57:1199-203. 2000
    ..Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?..
  2. ncbi request reprint Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?
    P Nokelainen
    Institute of Molecular Medicine, Department of Molecular Haematology, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom
    Am J Med Genet 103:198-206. 2001
    ..We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure...