Research Topics
Species | S A Lesnik ObersteinSummaryAffiliation: Leiden University Medical Center Country: The Netherlands Publications
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Detail Information
Publications
No vessel wall abnormalities in a human foetus with a NOTCH3 mutationSaskia A J Lesnik Oberstein
Acta Neuropathol 115:369-70. 2008
Cerebral microbleeds in CADASILS 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...
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferaseSaskia 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...
Evaluation of diagnostic NOTCH3 immunostaining in CADASILSaskia 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...
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...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decadesRivka 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....
Incipient CADASILSaskia 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...
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASILMichael 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...
Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyRivka van den Boom
Department of Radiology, Leiden University Medical Center, Albinusdreef 2, C2S, The Netherlands
Radiology 224:791-6. 2002....
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up studyMichael K Liem
Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
Radiology 249:964-71. 2008....
Lenticulostriate arterial lumina are normal in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a high-field in vivo MRI studyMichael 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...
Epilepsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyJoost Haan
Department of Neurology, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Cerebrovasc Dis 24:316-7. 2007
