J Aasly

Summary

Affiliation: Norwegian University of Science and Technology
Country: Norway

Publications

  1. ncbi request reprint Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms
    J Aasly
    Department of Neurology, University Hospital, Trondheim, Norway
    Eur J Neurol 7:111-3. 2000
  2. ncbi request reprint Clinical features of LRRK2-associated Parkinson's disease in central Norway
    Jan O Aasly
    Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Ann Neurol 57:762-5. 2005
  3. ncbi request reprint Proton magnetic resonance spectroscopy of brain biopsies from patients with intractable epilepsy
    J Aasly
    Department of Neurology, University Hospital, Trondheim, Norway
    Epilepsy Res 35:211-7. 1999
  4. ncbi request reprint Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
    Kristoffer Haugarvoll
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA, and Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Neurosci Lett 416:299-301. 2007
  5. ncbi request reprint Interleukin-1beta potentiates endothelin ET(B) receptor-mediated contraction in cultured segments of human temporal artery
    L R White
    Department of Neurology, University Hospital of Trondheim, Norway
    Regul Pept 81:89-95. 1999
  6. doi request reprint Two novel SCN9A mutations causing insensitivity to pain
    K B Nilsen
    Department of Neuroscience, Norwegian University of Science and Technology, Edvard Griegs gate 8, 7489 Trondheim, Norway
    Pain 143:155-8. 2009
  7. pmc Genetic association study of synphilin-1 in idiopathic Parkinson's disease
    Ronny Myhre
    Department of Laboratory Medicine, Children s and Women s Health, Norwegian University of Science and Technology, Trondheim, Norway
    BMC Med Genet 9:19. 2008
  8. ncbi request reprint MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
    Linda R White
    Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
    J Neurosci Res 85:1288-94. 2007
  9. pmc APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway
    Sigrid B Sando
    Department of Neuroscience, Norwegian University of Science and Technology, NTNU, Trondheim, Norway
    BMC Neurol 8:9. 2008
  10. ncbi request reprint [When the symptoms do not fit]
    Jan O Aasly
    Nevrologisk avdeling, St Olavs Hospital, 7006 Trondheim
    Tidsskr Nor Laegeforen 128:2066. 2008

Detail Information

Publications27

  1. ncbi request reprint Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms
    J Aasly
    Department of Neurology, University Hospital, Trondheim, Norway
    Eur J Neurol 7:111-3. 2000
    ..PGK deficiency is inherited as an X-linked trait and may show other features such as mental retardation and/or haemolytic anaemia...
  2. ncbi request reprint Clinical features of LRRK2-associated Parkinson's disease in central Norway
    Jan O Aasly
    Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Ann Neurol 57:762-5. 2005
    ..The clinical features included asymmetric resting tremor, bradykinesia, and rigidity with a good response to levodopa and could not be distinguished from idiopathic Parkinson's disease...
  3. ncbi request reprint Proton magnetic resonance spectroscopy of brain biopsies from patients with intractable epilepsy
    J Aasly
    Department of Neurology, University Hospital, Trondheim, Norway
    Epilepsy Res 35:211-7. 1999
    ..The results indicate that use of proton MRS could become a useful presurgical predictor of underlying pathology...
  4. ncbi request reprint Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
    Kristoffer Haugarvoll
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA, and Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Neurosci Lett 416:299-301. 2007
    ..Two rare coding variants ss65713826 and ss65713830 were more frequent in patients than controls. However, their identification in healthy controls and lack of co-segregation with disease suggests they may represent benign polymorphisms...
  5. ncbi request reprint Interleukin-1beta potentiates endothelin ET(B) receptor-mediated contraction in cultured segments of human temporal artery
    L R White
    Department of Neurology, University Hospital of Trondheim, Norway
    Regul Pept 81:89-95. 1999
    ..The results raise the possibility that contractile ET(B) receptors may be implicated in disease states with inflammatory processes...
  6. doi request reprint Two novel SCN9A mutations causing insensitivity to pain
    K B Nilsen
    Department of Neuroscience, Norwegian University of Science and Technology, Edvard Griegs gate 8, 7489 Trondheim, Norway
    Pain 143:155-8. 2009
    ..Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients...
  7. pmc Genetic association study of synphilin-1 in idiopathic Parkinson's disease
    Ronny Myhre
    Department of Laboratory Medicine, Children s and Women s Health, Norwegian University of Science and Technology, Trondheim, Norway
    BMC Med Genet 9:19. 2008
    ..In the present study, we have investigated whether common variability in synphilin-1, including coding substitutions are genetically associated with disease pathogenesis...
  8. ncbi request reprint MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
    Linda R White
    Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
    J Neurosci Res 85:1288-94. 2007
    ..Such changes may also be shown in blood samples during the preclinical stage of LRRK2-associated PD, which could be particularly important for the development of neuroprotective strategies to delay onset, or slow progression of PD...
  9. pmc APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway
    Sigrid B Sando
    Department of Neuroscience, Norwegian University of Science and Technology, NTNU, Trondheim, Norway
    BMC Neurol 8:9. 2008
    ....
  10. ncbi request reprint [When the symptoms do not fit]
    Jan O Aasly
    Nevrologisk avdeling, St Olavs Hospital, 7006 Trondheim
    Tidsskr Nor Laegeforen 128:2066. 2008
  11. doi request reprint Genealogical studies in LRRK2-associated Parkinson's disease in central Norway
    Krisztina K Johansen
    Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
    Parkinsonism Relat Disord 16:527-30. 2010
    ..G2019S parkinsonism. The mutation was probably introduced to Norway through tradesmen from Europe. The extended pedigree that now links modern day carriers may help in mapping penetrance modifiers...
  12. pmc Prevalence of haemochromatosis gene mutations in Parkinson's disease
    Anne Hege Aamodt
    Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway
    J Neurol Neurosurg Psychiatry 78:315-7. 2007
    ..No significant differences were found in frequencies between the patients and comparable populations. This study does not indicate increased susceptibility to Parkinson's disease in HFE gene mutation carriers in Norway...
  13. ncbi request reprint Thallium intoxication with metallic skin discoloration
    Jan O Aasly
    Department of Neurology, St Olav s Hospital, Trondheim, Norway
    Neurology 68:1869. 2007
  14. ncbi request reprint LRRK2 mutations are not common in Alzheimer's disease
    Mathias Toft
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    Mech Ageing Dev 126:1201-5. 2005
    ..However, these results do not exclude a possible role of other genetic variants within the LRRK2 gene in AD or other forms of dementia...
  15. ncbi request reprint Applications of neural network analyses to in vivo 1H magnetic resonance spectroscopy of epilepsy patients
    I J Bakken
    MR Center, SINTEF Unimed, Trondheim, Norway
    Epilepsy Res 35:245-52. 1999
    ....
  16. ncbi request reprint Cytokine enhancement of endothelin ET(B) receptor-mediated contraction in human temporal artery
    L R White
    Department of Neurology, Trondheim University Hospital, N 7006, Trondheim, Norway
    Eur J Pharmacol 406:117-22. 2000
    ....
  17. doi request reprint Biomarkers: Parkinson disease with dementia and dementia with Lewy bodies
    Krisztina K Johansen
    Department of Neuroscience, Norwegian University of Science and Technology NTNU, Trondheim, Norway
    Parkinsonism Relat Disord 16:307-15. 2010
    ..However as yet there are no markers that unequivocally distinguish between PDD and DLB...
  18. pmc Metabolomic profiling in LRRK2-related Parkinson's disease
    Krisztina K Johansen
    Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
    PLoS ONE 4:e7551. 2009
    ..Mutations in LRRK2 gene represent the most common known genetic cause of Parkinson's disease (PD)...
  19. ncbi request reprint Mitochondrial diseases and myopathies: a series of muscle biopsy specimens with ultrastructural changes in the mitochondria
    S Lindal
    Department of Pathology, University Hospital, , Norway
    Ultrastruct Pathol 16:263-75. 1992
    ....
  20. ncbi request reprint Nuclear magnetic resonance spectroscopy of cerebrospinal fluid from patients with low back pain and sciatica
    J A Zwart
    Department of Neurosurgery, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway
    Spine (Phila Pa 1976) 22:2112-6. 1997
    ....
  21. ncbi request reprint Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
    Owen A Ross
    Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K Udall Parkinson s Disease Research Center of Excellence, Mayo Clinic, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 13:386-8. 2007
    ..These data do not support a role for this common variant in PD etiology...
  22. ncbi request reprint ELAVL4, PARK10, and the Celts
    Kristoffer Haugarvoll
    Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA
    Mov Disord 22:585-7. 2007
    ..Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect...
  23. ncbi request reprint [Motor symptoms in Parkinson disease]
    Jan Petter Larsen
    Nevrologisk avdeling, Stavanger universitetssjukehus, 4068 Stavanger
    Tidsskr Nor Laegeforen 128:2068-71. 2008
    ..This paper describes how to diagnose Parkinson's disease and the various motor complications and gives recommendations on how to treat the symptoms in these patients...
  24. pmc Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies
    John V Pearson
    Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Am J Hum Genet 80:126-39. 2007
    ....
  25. ncbi request reprint Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
    Demetrius M Maraganore
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    JAMA 296:661-70. 2006
    ..Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, but large-scale studies have been lacking...
  26. pmc Genomewide association, Parkinson disease, and PARK10
    Matthew J Farrer
    Am J Hum Genet 78:1084-8; author reply 1092-4. 2006
  27. ncbi request reprint Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
    Mathias Toft
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Mov Disord 22:389-92. 2007
    ..3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease...