Literature DB >> 18765654

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

R Scheid1, W Heinritz, T Leyhe, D R Thal, R Schober, S Strenge, D Y von Cramon, U G Froster.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18765654     DOI： 10.1212/01.wnl.0000324928.44694.f7

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


× No keyword cloud information.
  18 in total

Review 1.  Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.

Authors:  Christof Haffner; Rainer Malik; Martin Dichgans
Journal:  J Cereb Blood Flow Metab       Date:  2016-01       Impact factor: 6.200

Review 2.  Clinical and research applications of magnetic resonance imaging in the study of CADASIL.

Authors:  Dorothee Schoemaker; Yakeel T Quiroz; Heirangi Torrico-Teave; Joseph F Arboleda-Velasquez
Journal:  Neurosci Lett       Date:  2019-01-08       Impact factor: 3.046

3.  Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.

Authors:  Akihiko Ueda; Mitsuharu Ueda; Akihito Nagatoshi; Teruyuki Hirano; Takaaki Ito; Nobutaka Arai; Eiichiro Uyama; Kota Mori; Masaaki Nakamura; Satoru Shinriki; Katsuyoshi Ikeda; Yukio Ando
Journal:  J Neurol       Date:  2015-05-16       Impact factor: 4.849

4.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.

Authors:  Jay Chol Choi
Journal:  J Clin Neurol       Date:  2010-03-26       Impact factor: 3.077

5.  Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.

Authors:  Anna Bersano; Michela Ranieri; Andrea Ciammola; Claudia Cinnante; Silvia Lanfranconi; Maria Teresa Dotti; Livia Candelise; Cinzaia Baschirotto; Isabella Ghione; Elena Ballabio; Nereo Bresolin; Maria Teresa Bassi
Journal:  Funct Neurol       Date:  2012 Oct-Dec

6.  A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses.

Authors:  Dimitrios Vlachakis; Spyridon Champeris Tsaniras; Katerina Ioannidou; Louis Papageorgiou; Marc Baumann; Sophia Kossida
Journal:  J Mol Biochem       Date:  2014

7.  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

8.  Potential New Cysteine Sparing Mutation in the NOTCH3 Gene in a Patient with Nonfamilial CADASIL-like Disease.

Authors:  Adnan I Qureshi; Muhammad T Khan; Omer Naveed; Muhammad A Saleem
Journal:  J Vasc Interv Neurol       Date:  2017-12

9.  A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL.

Authors:  Wei Ge; Hanzhe Kuang; Bin Wei; Le Bo; Zhice Xu; Xingshun Xu; Deqin Geng; Miao Sun
Journal:  PLoS One       Date:  2014-08-06       Impact factor: 3.240

Review 10.  Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

Authors:  Elena Muiño; Cristina Gallego-Fabrega; Natalia Cullell; Caty Carrera; Nuria Torres; Jurek Krupinski; Jaume Roquer; Joan Montaner; Israel Fernández-Cadenas
Journal:  Int J Mol Sci       Date:  2017-09-13       Impact factor: 5.923
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.