Literature DB >> 29101275

CARASIL families from India with 3 novel null mutations in the HTRA1 gene.

Veeramani Preethish-Kumar1, Hiroaki Nozaki1, Sarbesh Tiwari1, Seena Vengalil1, Maya Bhat1, Chandrajit Prasad1, Osamu Onodera1, Masahiro Uemura1, Seshagiri Doniparthi1, Jitender Saini1, Saraswati Nashi1, Kiran Polavarapu1, Atchayaram Nalini2.   

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Year:  2017        PMID： 29101275     DOI： 10.1212/WNL.0000000000004710

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


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  5 in total

Review 1.  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

2.  Case Report: Diffuse Cerebral Microbleeds in Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Authors:  Lan Wen; Jichao Yuan; Shuang Li; Jieyi Zhao; Congjun Li; Jiafei Li; Yuanyuan Han; Chaohua Wang; Guangjian Li
Journal:  Front Neurol       Date:  2022-02-09       Impact factor: 4.003

Review 3.  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

4.  Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.

Authors:  Chen Zhang; Honghua Zheng; Xin Li; Shaowu Li; Wei Li; Ziwei Wang; Songtao Niu; Xingao Wang; Zaiqiang Zhang
Journal:  Ann Clin Transl Neurol       Date:  2022-09-01       Impact factor: 5.430

5.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438
  5 in total

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