User profiles for S.A.J. Lesnik Oberstein
 | SAJ Lesnik ObersteinAsssociate professor, department of Clinical Genetics, Leiden University Medical Center … Verified email at lumc.nl Cited by 3834 |
[HTML][HTML] Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on …
…, E Jouvent, AD Korczyn, SAJ Lesnik-Oberstein… - BMC medicine, 2017 - Springer
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
(CADASIL) is the most common and best known monogenic small vessel disease. Here, …
(CADASIL) is the most common and best known monogenic small vessel disease. Here, …
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL
…, EMJ Boon, SAJ Lesnik Oberstein - Expert review of …, 2014 - Taylor & Francis
… families started out with seven in 1998 and has increased to more than 150 Dutch families
in 2013, with new families still being identified at a steady rate (Lesnik Oberstein SAJ, Boon …
in 2013, with new families still being identified at a steady rate (Lesnik Oberstein SAJ, Boon …
Cerebral microbleeds in CADASIL
SAJ Lesnik Oberstein, R Van den Boom… - Neurology, 2001 - AAN Enterprises
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts …
leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts …
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages—3rd–6th decades
R Van Den Boom, SAJ Lesnik Oberstein, MD Ferrari… - Radiology, 2003 - pubs.rsna.org
PURPOSE: To depict various brain lesions that have been described in patients who have
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (…
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (…
Hereditary cerebral small vessel diseases and stroke: a guide for diagnosis and management
S Guey, SAJ Lesnik Oberstein, E Tournier-Lasserve… - Stroke, 2021 - Am Heart Assoc
Cerebral small vessel diseases represent a frequent cause of stroke and cognitive or motor
disability in adults. A small proportion of cerebral small vessel diseases is attributable to …
disability in adults. A small proportion of cerebral small vessel diseases is attributable to …
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
…, M Bernal‐Quiros, SAJ Lesnik Oberstein - Annals of clinical …, 2016 - Wiley Online Library
Objective To determine the frequency of distinctive EGF r cysteine altering NOTCH 3 mutations
in the 60,706 exomes of the exome aggregation consortium (Ex AC ) database. Methods …
in the 60,706 exomes of the exome aggregation consortium (Ex AC ) database. Methods …
[HTML][HTML] The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe …
Purpose CADASIL is a small-vessel disease caused by a cysteine-altering pathogenic
variant in one of the 34 epidermal growth factor-like repeat (EGFr) domains of the NOTCH3 …
variant in one of the 34 epidermal growth factor-like repeat (EGFr) domains of the NOTCH3 …
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL
…, HAM Middelkoop, SAJ Lesnik Oberstein - Stroke, 2007 - Am Heart Assoc
… Saskia AJ Lesnik Oberstein Saskia AJ Lesnik Oberstein … 4 van den Boom R, Lesnik Oberstein
SA, Ferrari MD, Haan J, Van Buchem MA. Cerebral autosomal dominant arteriopathy with …
SA, Ferrari MD, Haan J, Van Buchem MA. Cerebral autosomal dominant arteriopathy with …
MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study
MK Liem, SAJ Lesnik Oberstein, J Haan… - Neurology, 2009 - AAN Enterprises
Background: Cognitive decline is one of the clinical hallmarks of cerebral autosomal
dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a …
dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a …
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance
Objective To determine the small vessel disease spectrum associated with cysteine-altering
NOTCH3 variants in community-dwelling individuals by analyzing the clinical and …
NOTCH3 variants in community-dwelling individuals by analyzing the clinical and …