Literature DB >> 24108583

Loss-of-function mutation in the NOTCH3 gene: simply a polymorphism?

Anne Joutel1.   

Abstract

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Year:  2013        PMID： 24108583     DOI： 10.1002/humu.22198

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Authors:  Neven Maksemous; Robert A Smith; Larisa M Haupt; Lyn R Griffiths
Journal:  Hum Genomics       Date:  2016-11-24       Impact factor: 4.639

2.  A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

Authors:  Elli Katharine Greisenegger; Sara Llufriu; Angel Chamorro; Alvaro Cervera; Adriano Jimenez-Escrig; Klemens Rappersberger; Wolfgang Marik; Stefan Greisenegger; Elisabeth Stögmann; Tamara Kopp; Tim M Strom; Jörg Henes; Anne Joutel; Alexander Zimprich
Journal:  J Neurol       Date:  2020-09-26       Impact factor: 4.849

3.  Immunolocalization of platelet-derived growth factor receptor-β (PDGFR-β) and pericytes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Authors:  Lucinda J L Craggs; Richard Fenwick; Arthur E Oakley; Masafumi Ihara; Raj N Kalaria
Journal:  Neuropathol Appl Neurobiol       Date:  2015-04-23       Impact factor: 8.090
  3 in total

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