Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C117F
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NOTCH3

NM_000435.3:p.C117F

Associated Papers

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.

Mukai M et al.

Journal of Human Genetics, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

Genotype-phenotype correlations of cysteine replacement in CADASIL.

Matsushima T et al.

Neurobiology of Aging, 2017

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

Rutten JW et al.

Annals of Clinical and Translational Neurology, 2016

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

Report of two Chinese families and a review of Mainland Chinese CADASIL patients.

Yin XZ et al.

Journal of the Neurological Sciences, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

CADASIL: a critical look at a Notch disease.

Louvi A et al.

Developmental Neuroscience, 2006

Peripheral nerve and skeletal muscle involvement in CADASIL.

Schröder JM et al.

Acta Neuropathologica, 2005

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

Opherk C et al.

Brain : a Journal of Neurology, 2004

Prolonged cerebral transit time in CADASIL: a transcranial ultrasound study.

Liebetrau M et al.

Stroke, 2002

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Dichgans M et al.

Neurology, 2001

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