Literature DB >> 20169447

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.

S Bianchi, A Rufa, M Ragno, C D'Eramo, F Pescini, L Pantoni, A Cappelli, A Perretti, E Zicari, P Zolo, D Inzitari, M T Dotti, A Federico.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20169447     DOI： 10.1007/s00415-010-5481-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  15 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.  Gene symbol: NOTCH3. Disease: CADASIL.

Authors:  S Bianchi; O Scali; M T Dotti; L Pantoni; L Parnetti; D Inzitari; A Federico
Journal:  Hum Genet       Date:  2005-12       Impact factor: 4.132

3.  Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.

Authors:  Silvia Bianchi; M T Dotti; A Perretti; A De Rosa; F Manganelli; A Federico
Journal:  Hum Genet       Date:  2007-12       Impact factor: 4.132

Review 4.  The spectrum of mutations for CADASIL diagnosis.

Authors:  A Federico; S Bianchi; M T Dotti
Journal:  Neurol Sci       Date:  2005-06       Impact factor: 3.307

5.  Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene.

Authors:  S Saiki; K Sakai; M Saiki; Y Kitagawa; T Umemori; K Murata; M Matsui; G Hirose
Journal:  Neurology       Date:  2006-07-25       Impact factor: 9.910

6.  Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Authors:  Saskia A J Lesnik Oberstein; J Wouter Jukema; Sjoerd G Van Duinen; Peter W Macfarlane; Hans C van Houwelingen; Martijn H Breuning; Michel D Ferrari; Joost Haan
Journal:  Medicine (Baltimore)       Date:  2003-07       Impact factor: 1.889

7.  Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

Authors:  Dominique Guerrot; Arnaud François; Jean-Jacques Boffa; Nada Boulos; Melanie Hanoy; Bruno Legallicier; Aude Triquenot-Bagan; Lucie Guyant-Marechal; Annie Laquerriere; Caroline Freguin-Bouilland; Pierre Ronco; Michel Godin
Journal:  Am J Kidney Dis       Date:  2008-06-24       Impact factor: 8.860

8.  Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Authors:  Alessandra Rufa; Nicola De Stefano; Maria Teresa Dotti; Silvia Bianchi; Francesco Sicurelli; Maria Laura Stromillo; Bruno D'Aniello; Antonio Federico
Journal:  Arch Neurol       Date:  2004-04

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

Authors:  Christian Opherk; Nils Peters; Jürgen Herzog; Rainer Luedtke; Martin Dichgans
Journal:  Brain       Date:  2004-09-13       Impact factor: 13.501

Review 10.  Neuropsychiatric manifestations in CADASIL.

Authors:  Hugues Chabriat; Marie-Germaine Bousser
Journal:  Dialogues Clin Neurosci       Date:  2007       Impact factor: 5.986
View more
  2 in total

1.  CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Authors:  Silvia Bianchi; Enza Zicari; Alessandra Carluccio; Ilaria Di Donato; Francesca Pescini; Serena Nannucci; Raffaella Valenti; Michele Ragno; Domenico Inzitari; Leonardo Pantoni; Antonio Federico; Maria Teresa Dotti
Journal:  J Neurol       Date:  2014-10-26       Impact factor: 4.849

2.  First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.

Authors:  Raffaella Valenti; Silvia Bianchi; Francesca Pescini; Camilla D'Eramo; Domenico Inzitari; Maria Teresa Dotti; Leonardo Pantoni
Journal:  J Neurol       Date:  2011-03-16       Impact factor: 4.849
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.