Literature DB >> 12821764

Diagnostic strategies in CADASIL.

S S M Razvi, R Davidson, I Bone, K W Muir.   

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Year:  2003        PMID: 12821764     DOI: 10.1212/wnl.60.12.2019

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


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  7 in total

1.  The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.

Authors:  Yi-Chung Lee; An-Hang Yang; Bing-Wen Soong
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849

2.  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

3.  Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.

Authors:  Yi-Chung Lee; Chin-San Liu; Ming-Hong Chang; Kon-Ping Lin; Jong-Ling Fuh; Yi-Chu Lu; Ya-Fen Liu; Bing-Wen Soong
Journal:  J Neurol       Date:  2009-02-26       Impact factor: 4.849

4.  Phenotypic characterization of CADASIL patients with the Arg332Cys mutation in the NOTCH3.

Authors:  Chen-Si Li; Tian-Wei Wang; Jie Wang; Shuai-Hong Li; Na Li; Xiao-Shuang Wang; Le Fang
Journal:  Ann Transl Med       Date:  2020-01

5.  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

6.  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

7.  The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China.

Authors:  Dan He; Daiqi Chen; Xuefei Li; Zheng Hu; Zhiyuan Yu; Wei Wang; Xiang Luo
Journal:  J Headache Pain       Date:  2016-05-20       Impact factor: 7.277

  7 in total

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