| 1 |
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17: 405- 424.
doi: 10.1038/gim.2015.30
|
| 2 |
Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain, 2015, 138: 2347- 2358.
doi: 10.1093/brain/awv155
|
| 3 |
Whittaker E, Thrippleton S, Chong LYW, Collins VG, Ferguson AC, Henshall DE, Lancastle E, Wilkinson T, Wilson B, Wilson K, Sudlow C, Wardlaw J, Rannikmäe K. Systematic review of cerebral phenotypes associated with monogenic cerebral small-vessel disease. J Am Heart Assoc, 2022, 11: e025629.
doi: 10.1161/JAHA.121.025629
|
| 4 |
Guey S, Hervé D. Main features of COL4A1-COL4A2 related cerebral microangiopathies. Cereb Circ Cogn Behav, 2022, 3: 100140.
|
| 5 |
Chen Y, Zhou YY, Wang P, Li P, Liu LP, Liu H, Zhang HH. Clinical features of cognitive function in eight patients with hereditary cerebral small vessel disease. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2019, 19: 559- 566.
doi: 10.3969/j.issn.1672-6731.2019.08.005
|
|
陈嫄, 周玉颖, 王盼, 李攀, 刘丽萍, 刘辉, 张惠红. 遗传性脑小血管病八例认知功能障碍临床特点分析. 中国现代神经疾病杂志, 2019, 19: 559- 566.
doi: 10.3969/j.issn.1672-6731.2019.08.005
|
| 6 |
Zhan FX, Chen XH, Zhao YC, Ma YJ, Zhuang JH, Yin Y. Advances in the correlation between cerebral small vessel disease and sleep disorders. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2021, 21: 423- 426.
doi: 10.3969/j.issn.1672-6731.2021.05.016
|
|
詹飞霞, 陈晓晗, 赵玉丞, 马跃晋, 庄建华, 尹又. 脑小血管病与睡眠障碍相关性研究进展. 中国现代神经疾病杂志, 2021, 21: 423- 426.
doi: 10.3969/j.issn.1672-6731.2021.05.016
|
| 7 |
Liu JY, Yao M, Dai Y, Han F, Zhai FF, Zhang DD, Zhou LX, Ni J, Zhang SY, Cui LY, Zhu YC. Rare NOTCH3 variants in a Chinese population-based cohort and its relationship with cerebral small vessel disease. Stroke, 2021, 52: 3918- 3925.
doi: 10.1161/STROKEAHA.120.032265
|
| 8 |
Xu SY, Li HJ, Li S, Ren QQ, Liang JL, Li CX. Heterozygous pathogenic and likely pathogenic symptomatic HTRA1 variant carriers in cerebral small vessel disease. Int J Gen Med, 2023, 16: 1149- 1162.
doi: 10.2147/IJGM.S404813
|
| 9 |
Thakore P, Yamasaki E, Ali S, Sanchez Solano A, Labelle-Dumais C, Gao X, Chaumeil MM, Gould DB, Earley S. PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease. Proc Natl Acad Sci USA, 2023, 120: e2306479120.
doi: 10.1073/pnas.2306479120
|
| 10 |
Wilms AE, de Boer I, Terwindt GM. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): an update on basic science and clinical perspectives. Cereb Circ Cogn Behav, 2022, 3: 100046.
|
| 11 |
Litak J, Mazurek M, Kulesza B, Szmygin P, Litak J, Kamieniak P, Grochowski C. Cerebral small vessel disease. Int J Mol Sci, 2020, 21: 9729.
doi: 10.3390/ijms21249729
|
| 12 |
Favor J, Gloeckner CJ, Janik D, Klempt M, Neuhäuser-Klaus A, Pretsch W, Schmahl W, Quintanilla-Fend L. Type Ⅳ procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the COL4A1 allelic series and the identification of the first two COL4A2 mutant alleles. Genetics, 2007, 175: 725- 736.
doi: 10.1534/genetics.106.064733
|
| 13 |
Wang QH, Zou LP, Zhang MN, Wang YY, Lu Q, Shen YW, He W, Chen HM, Luo XM, Wang J, Zhang TT. Phenotypic characterization of COL4A1-related West syndrome. Epilepsy Res, 2020, 164: 106349.
doi: 10.1016/j.eplepsyres.2020.106349
|
| 14 |
Zhang H, Fan KL, Zhang YQ, Hao XY, Yuan XZ, Zhang SY. Case report: recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1. Front Neurol, 2023, 14: 1237847.
doi: 10.3389/fneur.2023.1237847
|
| 15 |
Kumar AA, Yeo N, Whittaker M, Attra P, Barrick TR, Bridges LR, Dickson DW, Esiri MM, Farris CW, Graham D, Lin WL, Meijles DN, Pereira AC, Perry G, Rosene DL, Shtaya AB, Van Agtmael T, Zamboni G, Hainsworth AH. Vascular collagen type-Ⅳ in hypertension and cerebral small vessel disease. Stroke, 2022, 53: 3696- 3705.
doi: 10.1161/STROKEAHA.122.037761
|
| 16 |
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet, 2012, 20: 844- 851.
doi: 10.1038/ejhg.2012.20
|
| 17 |
Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H. De novo and inherited mutations in COL4A2, encoding the type Ⅳ collagen α2 chain cause porencephaly. Am J Hum Genet, 2012, 90: 86- 90.
doi: 10.1016/j.ajhg.2011.11.016
|
| 18 |
Timpl R. Structure and biological activity of basement membrane proteins. Eur J Biochem, 1989, 180: 487- 502.
doi: 10.1111/j.1432-1033.1989.tb14673.x
|
| 19 |
Chung J, Hamilton G, Kim M, Marini S, Montgomery B, Henry J, Cho AE, Brown DL, Worrall BB, Meschia JF, Silliman SL, Selim M, Tirschwell DL, Kidwell CS, Kissela B, Greenberg SM, Viswanathan A, Goldstein JN, Langefeld CD, Rannikmae K, Sudlow CL, Samarasekera N, Rodrigues M, Al-Shahi Salman R, Prendergast JGD, Harris SE, Deary I, Woo D, Rosand J, Van Agtmael T, Anderson CD. Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage. Neurology, 2021, 97: e236- e247.
|
| 20 |
Hausman-Kedem M, Malinger G, Modai S, Kushner SA, Shiran SI, Ben-Sira L, Roth J, Constantini S, Fattal-Valevski A, Ben-Shachar S. Monogenic causes of apparently idiopathic perinatal intracranial hemorrhage. Ann Neurol, 2021, 89: 813- 822.
doi: 10.1002/ana.26033
|
| 21 |
Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology, 2011, 76: 844- 846.
doi: 10.1212/WNL.0b013e31820e7751
|
| 22 |
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet, 2021, 58: 505- 513.
doi: 10.1136/jmedgenet-2020-106896
|
| 23 |
Neri S, Ferlazzo E, Africa E, Versace P, Ascoli M, Mastroianni G, Cianci V, Aguglia U, Gasparini S. Novel COL4A2 mutation causing familial malformations of cortical development. Eur Rev Med Pharmacol Sci, 2021, 25: 898- 905.
|