List of works - Saskia Lesnik Oberstein

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

scientific article published on 29 April 2015

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type

scientific article published on January 2014

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

scientific article published on 28 September 2016

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

scientific article published on 24 September 2016

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades ⬇️

scientific article published on October 30, 2003

Epilepsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article published on 03 August 2007

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

scientific article published on 17 May 2003

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

scientific article published on 25 May 2012

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

scientific article

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report

scientific article published on 01 December 2008

Incipient CADASIL

scientific article published on 01 May 2003

Lenticulostriate arterial lumina are normal in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a high-field in vivo MRI study

scientific article published on 21 October 2010

Letter by Rutten et al Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro"

scientific article published on 28 April 2015

No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.

scientific article published on 12 January 2008

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

scientific article

Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice

scientific article published on 30 October 2019

Serum Neurofilament light correlates with CADASIL disease severity and survival

scientific article published on 20 November 2018

Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

scientific article published in September 2002

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant

scientific article published on 22 July 2018

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

scientific article

Translational models for vascular cognitive impairment: a review including larger species

scientific article

List of works by Saskia Lesnik Oberstein

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades ⬇️

Epilepsy in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report

Incipient CADASIL

Lenticulostriate arterial lumina are normal in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a high-field in vivo MRI study

Letter by Rutten et al Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro"

No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice

Serum Neurofilament light correlates with CADASIL disease severity and survival

Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Translational models for vascular cognitive impairment: a review including larger species