S A Lesnik Oberstein

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. pmc No vessel wall abnormalities in a human foetus with a NOTCH3 mutation
    Saskia A J Lesnik Oberstein
    Acta Neuropathol 115:369-70. 2008
  2. ncbi request reprint Cerebral microbleeds in CADASIL
    S A Lesnik Oberstein
    Department of Clinical Genetics, Leiden University Medical Center, Rijnland Hospital, Leiden, The Netherlands
    Neurology 57:1066-70. 2001
  3. pmc Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    Saskia A J Lesnik Oberstein
    Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Am J Hum Genet 79:562-6. 2006
  4. ncbi request reprint Evaluation of diagnostic NOTCH3 immunostaining in CADASIL
    Saskia A J Lesnik Oberstein
    Department of Clinical Genetics, K5 R, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Acta Neuropathol 106:107-11. 2003
  5. ncbi request reprint Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Saskia A J Lesnik Oberstein
    Department of Clinical Genetics, Leiden University Medical Center, The Netherlands
    Medicine (Baltimore) 82:251-6. 2003
  6. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades
    Rivka van den Boom
    Departments of Radiology, Clinical Genetics, and Neurology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Radiology 229:683-90. 2003
  7. ncbi request reprint Incipient CADASIL
    Saskia A J Lesnik Oberstein
    Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Arch Neurol 60:707-12. 2003
  8. ncbi request reprint Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Stroke 38:923-8. 2007
  9. ncbi request reprint Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Rivka van den Boom
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, C2S, The Netherlands
    Radiology 224:791-6. 2002
  10. doi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Radiology 249:964-71. 2008

Detail Information

Publications12

  1. pmc No vessel wall abnormalities in a human foetus with a NOTCH3 mutation
    Saskia A J Lesnik Oberstein
    Acta Neuropathol 115:369-70. 2008
  2. ncbi request reprint Cerebral microbleeds in CADASIL
    S A Lesnik Oberstein
    Department of Clinical Genetics, Leiden University Medical Center, Rijnland Hospital, Leiden, The Netherlands
    Neurology 57:1066-70. 2001
    ..However, the presence of cerebral microbleeds, which often remain undetected on conventional MRI, has not been determined in CADASIL...
  3. pmc Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    Saskia A J Lesnik Oberstein
    Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Am J Hum Genet 79:562-6. 2006
    ..This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects...
  4. ncbi request reprint Evaluation of diagnostic NOTCH3 immunostaining in CADASIL
    Saskia A J Lesnik Oberstein
    Department of Clinical Genetics, K5 R, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Acta Neuropathol 106:107-11. 2003
    ..Confirmation by DNA analysis is requisite for positive results, and when there exists high clinical suspicion, also for negative results...
  5. ncbi request reprint Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Saskia A J Lesnik Oberstein
    Department of Clinical Genetics, Leiden University Medical Center, The Netherlands
    Medicine (Baltimore) 82:251-6. 2003
    ..To our knowledge, this is the first study showing that NOTCH3 mutation carriers may be at increased risk of early acute myocardial infarction, expanding CADASIL disease expression beyond the central nervous system to include the heart...
  6. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades
    Rivka van den Boom
    Departments of Radiology, Clinical Genetics, and Neurology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Radiology 229:683-90. 2003
    ....
  7. ncbi request reprint Incipient CADASIL
    Saskia A J Lesnik Oberstein
    Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Arch Neurol 60:707-12. 2003
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Knowledge of disease expression in young adult NOTCH3 mutation carriers (MCs) is limited...
  8. ncbi request reprint Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Stroke 38:923-8. 2007
    ..The objective of this study was to determine to what extent lacunar infarcts and microbleeds on MRI contribute to cognitive decline in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy...
  9. ncbi request reprint Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Rivka van den Boom
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, C2S, The Netherlands
    Radiology 224:791-6. 2002
    ....
  10. doi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Radiology 249:964-71. 2008
    ....
  11. doi request reprint Lenticulostriate arterial lumina are normal in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a high-field in vivo MRI study
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, ZA Leiden, The Netherlands
    Stroke 41:2812-6. 2010
    ..The aim of this study is to examine the luminal diameters of lenticulostriate arteries in living patients with CADASIL and to investigate whether luminal narrowing is correlated with the number of lacunar infarcts in the basal ganglia...
  12. ncbi request reprint Epilepsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Joost Haan
    Department of Neurology, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Cerebrovasc Dis 24:316-7. 2007