Literature DB >> 30447605

A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?

Silvia Favaretto1, Monica Margoni2, Leonardo Salviati3, Luigi Pianese4, Renzo Manara5, Claudio Baracchini1.   

Abstract

Entities:  

Keywords:  CARASIL; Cerebrovascular disease; MRI; Neurosonology

Mesh：

Substances：

Year:  2018        PMID： 30447605     DOI： 10.1016/j.jns.2018.11.008

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  5 in total

1.  Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.

Authors:  Zheng He; Lijun Wang; Yichi Zhang; Chunmao Yin; Yanliang Niu
Journal:  Neurol Sci       Date:  2022-10-18       Impact factor: 3.830

Review 2.  HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.

Authors:  Masahiro Uemura; Hiroaki Nozaki; Taisuke Kato; Akihide Koyama; Naoko Sakai; Shoichiro Ando; Masato Kanazawa; Nozomi Hishikawa; Yoshinori Nishimoto; Kiran Polavarapu; Atchayaram Nalini; Akira Hanazono; Daisuke Kuzume; Akihiro Shindo; Mohammad El-Ghanem; Arata Abe; Aki Sato; Mari Yoshida; Takeshi Ikeuchi; Ikuko Mizuta; Toshiki Mizuno; Osamu Onodera
Journal:  Front Neurol       Date:  2020-07-03       Impact factor: 4.003

3.  Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease.

Authors:  Mei-Jiao Chen; Yi Zhang; Wen-Jiao Luo; Hai-Lin Dong; Qiao Wei; Juan Zhang; Qi-Qi Ruan; Wang Ni; Hong-Fu Li
Journal:  Front Genet       Date:  2022-08-10       Impact factor: 4.772

Review 4.  Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

Authors:  Hui Zhou; Bin Jiao; Ziyu Ouyang; Qihui Wu; Lu Shen; Liangjuan Fang
Journal:  Mol Genet Genomic Med       Date:  2022-08-10       Impact factor: 2.473

5.  Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.

Authors:  Merel O Mol; Jeroen G J van Rooij; Esther Brusse; Annemieke J M H Verkerk; Shamiram Melhem; Wilfred F A den Dunnen; Patrizia Rizzu; Chiara Cupidi; John C van Swieten; Laura Donker Kaat
Journal:  Neurol Genet       Date:  2020-03-23
  5 in total

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