These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review. Zhang H; Qin X; Shi Y; Gao X; Wang F; Wang H; Shang J; Zhao J; Zhang J; Shao F Neurogenetics; 2021 Jul; 22(3):187-194. PubMed ID: 33963955 [TBL] [Abstract][Full Text] [Related]
23. Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families. Zhang WY; Xie F; Lu PL Neurol Sci; 2018 Mar; 39(3):497-501. PubMed ID: 29305662 [TBL] [Abstract][Full Text] [Related]
24. Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports. Kitahara S; Tsuboguchi S; Uemura M; Nozaki H; Kanazawa M; Onodera O Clin Neurol Neurosurg; 2022 Dec; 223():107502. PubMed ID: 36334553 [TBL] [Abstract][Full Text] [Related]
25. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling. Hidalgo Mayoral I; Martínez-Salio A; Llamas-Velasco S; Gómez-Majón I; Arteche-López A; Quesada-Espinosa JF; Palma Milla C; Lezana Rosales JM; Pérez de la Fuente R; Juárez Rufián A; Sierra Tomillo O; Sánchez Calvín MT; Gómez Rodríguez MJ; Ramos Gómez P; Villarejo-Galende A; Díaz-Guzmán J; Ortega-Casarrubios MÁ; Calleja-Castaño P; Moreno-García M Eur J Med Genet; 2022 Aug; 65(8):104539. PubMed ID: 35705147 [TBL] [Abstract][Full Text] [Related]
26. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic. Shirah B; Algahtani H; Algahtani R; Alfares A; Hassan A J Stroke Cerebrovasc Dis; 2023 Aug; 32(8):107225. PubMed ID: 37348440 [TBL] [Abstract][Full Text] [Related]
28. Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease. He Z; Wang L; Zhang Y; Yin C; Niu Y Neurol Sci; 2023 Feb; 44(2):639-647. PubMed ID: 36253578 [TBL] [Abstract][Full Text] [Related]
29. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Muthusamy K; Ferrer A; Klee EW; Wierenga KJ; Gavrilova RH Mol Genet Genomic Med; 2021 Oct; 9(10):e1799. PubMed ID: 34510819 [TBL] [Abstract][Full Text] [Related]
30. Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review. Yu Z; Cao S; Wu A; Yue H; Zhang C; Wang J; Xia M; Wu J World Neurosurg; 2020 Nov; 143():121-128. PubMed ID: 32445900 [TBL] [Abstract][Full Text] [Related]
31. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. Fukutake T J Stroke Cerebrovasc Dis; 2011; 20(2):85-93. PubMed ID: 21215656 [TBL] [Abstract][Full Text] [Related]
32. 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. Ito S; Takao M; Fukutake T; Hatsuta H; Funabe S; Ito N; Shimoe Y; Niki T; Nakano I; Fukayama M; Murayama S J Neuropathol Exp Neurol; 2016 Nov; 75(11):1020-1030. PubMed ID: 27634960 [TBL] [Abstract][Full Text] [Related]
33. A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review. Ibrahimi M; Nozaki H; Lee A; Onodera O; Reichwein R; Wicklund M; El-Ghanem M Cerebrovasc Dis; 2017; 44(3-4):135-140. PubMed ID: 28628911 [TBL] [Abstract][Full Text] [Related]
34. Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic. Coste T; Hervé D; Neau JP; Jouvent E; Ba F; Bergametti F; Lamy M; Cogez J; Derache N; Schneckenburger R; Grelet M; Gollion C; Lanotte L; Lauer V; Layet V; Urbanczyk C; Didic M; Raynouard I; Delaval L; Dassa J; Florea A; Badiu C; Nguyen K; Tournier-Lasserve E Brain; 2021 Oct; 144(9):2616-2624. PubMed ID: 34270682 [TBL] [Abstract][Full Text] [Related]
35. Case Report: Diffuse Cerebral Microbleeds in Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. Wen L; Yuan J; Li S; Zhao J; Li C; Li J; Han Y; Wang C; Li G Front Neurol; 2022; 13():818332. PubMed ID: 35222251 [TBL] [Abstract][Full Text] [Related]
36. Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of Kondo Y; Yoshinaga T; Nakamura K; Yamaguchi T; Ishikawa M; Kosho T; Sekijima Y Neurol Genet; 2023 Feb; 9(1):e200047. PubMed ID: 36530220 [TBL] [Abstract][Full Text] [Related]
37. Cerebral small vessel disease due to a unique heterozygous Oluwole OJ; Ibrahim H; Garozzo D; Ben Hamouda K; Ismail Mostafa Hassan S; Hegazy AM; Msaddi AK Neurol Genet; 2020 Feb; 6(1):e382. PubMed ID: 32042911 [TBL] [Abstract][Full Text] [Related]