Found: 13
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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 345, doi. 10.1007/s00431-023-05279-4
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- Publication type:
- Article
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA -Gene Variants.
- Published in:
- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 3, p. 86, doi. 10.3390/jcdd11030086
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- Publication type:
- Article
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2913, doi. 10.1093/brain/awac486
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- Publication type:
- Article
Serum Neurofilament light correlates with CADASIL disease severity and survival.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 46, doi. 10.1002/acn3.678
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- Publication type:
- Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 844, doi. 10.1002/acn3.344
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- Publication type:
- Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0268-1
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- Publication type:
- Article
Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 2, p. 1, doi. 10.15252/emmm.202216556
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- Publication type:
- Article
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12751
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- Publication type:
- Article
Translational models for vascular cognitive impairment: a review including larger species.
- Published in:
- 2017
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- Publication type:
- journal article
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
- Published in:
- 2016
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- Publication type:
- journal article
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1486, doi. 10.1002/humu.22432
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- Publication type:
- Article
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 11, p. 1853, doi. 10.1093/hmg/ddz285
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- Publication type:
- Article
Further delineation of phenotypic spectrum of SCN2A‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
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- Publication type:
- Article