Literature DB >> 19259619

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

C Ungaro, P Servillo, Rosalucia Mazzei, D Consoli, F L Conforti, T Sprovieri, P L Lanza, A Quattrone.   

Abstract

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Year:  2009        PMID： 19259619     DOI： 10.1007/s10072-009-0040-z

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

1.  The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Authors:  M T Dotti; A Federico; R Mazzei; S Bianchi; O Scali; F L Conforti; T Sprovieri; D Guidetti; U Aguglia; D Consoli; L Pantoni; C Sarti; D Inzitari; A Quattrone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-05       Impact factor: 10.154

2.  Novel mutation of the Notch3 gene in a Japanese patient with CADASIL.

Authors:  K Oki; E Nagata; A Ishiko; A Shimizu; K Tanaka; K Takahashi; T Tabira; T Katayama; N Suzuki
Journal:  Eur J Neurol       Date:  2007-04       Impact factor: 6.089

3.  Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.

Authors:  A Joutel; K Vahedi; C Corpechot; A Troesch; H Chabriat; C Vayssière; C Cruaud; J Maciazek; J Weissenbach; M G Bousser; J F Bach; E Tournier-Lasserve
Journal:  Lancet       Date:  1997-11-22       Impact factor: 79.321

4.  MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL.

Authors:  M O'Sullivan; J M Jarosz; R J Martin; N Deasy; J F Powell; H S Markus
Journal:  Neurology       Date:  2001-03-13       Impact factor: 9.910

Review 5.  Psychiatric disturbances in CADASIL: a brief review.

Authors:  R Valenti; A Poggesi; F Pescini; D Inzitari; L Pantoni
Journal:  Acta Neurol Scand       Date:  2008-03-26       Impact factor: 3.209
  5 in total

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