Literature DB >> 29546604

A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.

A R Pati1, C Battisti2, I Taglia1, P Galluzzi1, M Bianchi1, A Federico1.   

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Year:  2018        PMID： 29546604     DOI： 10.1007/s10072-018-3294-5

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

1.  The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.

Authors:  Anastasia Bougea; George Velonakis; Nikolaos Spantideas; Evangelos Anagnostou; George Paraskevas; Elisabeth Kapaki; Evangelia Kararizou
Journal:  Neuroradiol J       Date:  2017-04-12

2.  Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases.

Authors:  Shinji Ito; Masaki Takao; Toshio Fukutake; Hiroyuki Hatsuta; Sayaka Funabe; Nobuo Ito; Yutaka Shimoe; Toshiro Niki; Imaharu Nakano; Masashi Fukayama; Shigeo Murayama
Journal:  J Neuropathol Exp Neurol       Date:  2016-11-01       Impact factor: 3.685

3.  Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Authors:  Edgard Verdura; Dominique Hervé; Eva Scharrer; Maria Del Mar Amador; Lucie Guyant-Maréchal; Anne Philippi; Astrid Corlobé; Françoise Bergametti; Steven Gazal; Carol Prieto-Morin; Nathalie Beaufort; Benoit Le Bail; Irina Viakhireva; Martin Dichgans; Hugues Chabriat; Christof Haffner; Elisabeth Tournier-Lasserve
Journal:  Brain       Date:  2015-06-10       Impact factor: 13.501

4.  Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Authors:  Ilaria Di Donato; Silvia Bianchi; Gian Nicola Gallus; Alfonso Cerase; Ilaria Taglia; Francesca Pescini; Serena Nannucci; Carla Battisti; Domenico Inzitari; Leonardo Pantoni; Andrea Zini; Antonio Federico; Maria Teresa Dotti
Journal:  CNS Neurosci Ther       Date:  2017-08-06       Impact factor: 5.243

Review 5.  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.

Authors:  Toshio Fukutake
Journal:  J Stroke Cerebrovasc Dis       Date:  2011-01-07       Impact factor: 2.136

6.  Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.

Authors:  Nathalie Beaufort; Eva Scharrer; Elisabeth Kremmer; Vanda Lux; Michael Ehrmann; Robert Huber; Henry Houlden; David Werring; Christof Haffner; Martin Dichgans
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-04       Impact factor: 11.205

Review 7.  Update on cerebral small vessel disease: a dynamic whole-brain disease.

Authors:  Yulu Shi; Joanna M Wardlaw
Journal:  Stroke Vasc Neurol       Date:  2016-10-25
  7 in total
  6 in total

Review 1.  Clinical application of next-generation sequencing to the practice of neurology.

Authors:  Jessica Rexach; Hane Lee; Julian A Martinez-Agosto; Andrea H Németh; Brent L Fogel
Journal:  Lancet Neurol       Date:  2019-05       Impact factor: 44.182

2.  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

3.  Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Authors:  Ed Whittaker; Sophie Thrippleton; Liza Y W Chong; Victoria G Collins; Amy C Ferguson; David E Henshall; Emily Lancastle; Tim Wilkinson; Blair Wilson; Kirsty Wilson; Cathie Sudlow; Joanna Wardlaw; Kristiina Rannikmäe
Journal:  J Am Heart Assoc       Date:  2022-06-14       Impact factor: 6.106

Review 4.  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

5.  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 6.  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
  6 in total

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