Literature DB >> 10802807

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.

A Joutel1, H Chabriat, K Vahedi, V Domenga, C Vayssière, M M Ruchoux, C Lucas, D Leys, M G Bousser, E Tournier-Lasserve.   

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Year:  2000        PMID: 10802807     DOI: 10.1212/wnl.54.9.1874

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  12 in total

Review 1.  Genetic animal models of cerebral vasculopathies.

Authors:  Jeong Hyun Lee; Brian J Bacskai; Cenk Ayata
Journal:  Prog Mol Biol Transl Sci       Date:  2012       Impact factor: 3.622

2.  Excellent cognitive performance despite massive cerebral white matter changes.

Authors:  Thomas Duning; Harald Kugel; Stefan Knecht
Journal:  Neuroradiology       Date:  2005-09-09       Impact factor: 2.804

Review 3.  CADASIL: experimental insights from animal models.

Authors:  Cenk Ayata
Journal:  Stroke       Date:  2010-10       Impact factor: 7.914

Review 4.  Single gene disorders causing ischaemic stroke.

Authors:  Saif S M Razvi; Ian Bone
Journal:  J Neurol       Date:  2006-06       Impact factor: 4.849

5.  Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.

Authors:  Anne Joutel; Marie Monet; Valérie Domenga; Florence Riant; Elisabeth Tournier-Lasserve
Journal:  Am J Hum Genet       Date:  2004-01-08       Impact factor: 11.025

6.  "CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.

Authors:  Michele Ragno; Luigi Pianese; Manrico Morroni; Gabriella Cacchiò; Antonio Manca; Fabio Di Marzio; Serena Silvestri; Cristina Miceli; Maria Scarcella; Marco Onofrj; Luigi Trojano
Journal:  Neurol Sci       Date:  2013-04-10       Impact factor: 3.307

7.  Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.

Authors:  He Meng; Xiaojie Zhang; Genggeng Yu; Soo Jung Lee; Y Eugene Chen; Igor Prudovsky; Michael M Wang
Journal:  PLoS One       Date:  2012-09-18       Impact factor: 3.240

Review 8.  Neuropsychiatric manifestations in CADASIL.

Authors:  Hugues Chabriat; Marie-Germaine Bousser
Journal:  Dialogues Clin Neurosci       Date:  2007       Impact factor: 5.986

9.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Authors:  Radi Shahien; Silvia Bianchi; Abdalla Bowirrat
Journal:  Neuropsychiatr Dis Treat       Date:  2011-06-20       Impact factor: 2.570

10.  Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Authors:  Saara Tikka; Kati Mykkänen; Marie-Magdeleine Ruchoux; Robert Bergholm; Maija Junna; Minna Pöyhönen; Hannele Yki-Järvinen; Anne Joutel; Matti Viitanen; Marc Baumann; Hannu Kalimo
Journal:  Brain       Date:  2009-01-27       Impact factor: 13.501

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