Jimmy Sundblom

Summary

Affiliation: Uppsala University
Country: Sweden

Publications

  1. doi request reprint Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers
    Jimmy Sundblom
    Department of Neuroscience, Neurology, University Hospital, Uppsala University SE 751 85 Uppsala, Sweden
    Muscle Nerve 41:751-7. 2010
  2. doi request reprint A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease
    Jimmy Sundblom
    Department of Neuroscience, Neurology, University Hospital, Uppsala University, 751 85, Uppsala, Sweden
    J Anesth 27:128-31. 2013
  3. doi request reprint Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
    Jens Schuster
    Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University and University Hospital, SE 751 85, Uppsala, Sweden
    Neurogenetics 12:65-72. 2011

Collaborators

  • Gunilla Islander
  • Erik StÃ¥lberg
  • Jens Schuster
  • Sharon Hassin-Baer
  • Atle Melberg
  • Niklas Dahl
  • Ann Charlotte Thuresson
  • Oren S Cohen
  • Thomas Klopstock
  • Martin Dichgans
  • Raili Raininko

Detail Information

Publications3

  1. doi request reprint Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers
    Jimmy Sundblom
    Department of Neuroscience, Neurology, University Hospital, Uppsala University SE 751 85 Uppsala, Sweden
    Muscle Nerve 41:751-7. 2010
    ..The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis...
  2. doi request reprint A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease
    Jimmy Sundblom
    Department of Neuroscience, Neurology, University Hospital, Uppsala University, 751 85, Uppsala, Sweden
    J Anesth 27:128-31. 2013
    ..We conclude that RMD patients should not, on the basis of our present knowledge, be classified as having MHS; however, an increased surveillance for MH reactions is recommended in these patients...
  3. doi request reprint Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
    Jens Schuster
    Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University and University Hospital, SE 751 85, Uppsala, Sweden
    Neurogenetics 12:65-72. 2011
    ..Furthermore, we show that a molecular diagnosis for ADLD with autonomic symptoms can be obtained by a direct analysis of lamin B1 in peripheral leukocytes...