Affiliation: Uppsala University
- Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriersJimmy 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...
- A family with discordance between malignant hyperthermia susceptibility and rippling muscle diseaseJimmy 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...
- LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological courseJohannes Finnsson
Department of Radiology, Uppsala University, Uppsala, Sweden
Ann Neurol 78:412-25. 2015..Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD...
- Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens 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...