Literature DB >> 28369186

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Maija Siitonen1, Anne Börjesson-Hanson2, Minna Pöyhönen3,4, Ari Ora5, Petra Pasanen1,6, Jose Bras7,8, Silke Kern2, Jürgen Kern2, Oluf Andersen9, Horia Stanescu10, Robert Kleta10, Marc Baumann11, Rajesh Kalaria12, Hannu Kalimo13, Andy Singleton14, John Hardy7,15, Matti Viitanen16,17, Liisa Myllykangas13, Rita Guerreiro7,8.   

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Year:  2017        PMID： 28369186      PMCID： PMC6248625          DOI： 10.1093/brain/awx062

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  15 in total

1.  Allegro, a new computer program for multipoint linkage analysis.

Authors:  D F Gudbjartsson; K Jonasson; M L Frigge; A Kong
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

2.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

Review 3.  Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?

Authors:  Anne Joutel; Iman Haddad; Julien Ratelade; Mark T Nelson
Journal:  J Cereb Blood Flow Metab       Date:  2016-01       Impact factor: 6.200

4.  Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease.

Authors:  P Sourander; J Wålinder
Journal:  Acta Neuropathol       Date:  1977-08-31       Impact factor: 17.088

5.  Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Authors:  Edgard Verdura; Dominique Hervé; Françoise Bergametti; Clémence Jacquet; Typhaine Morvan; Carol Prieto-Morin; Alexandre Mackowiak; Eric Manchon; Hassan Hosseini; Charlotte Cordonnier; Isabelle Girard-Buttaz; Sophie Rosenstingl; Christian Hagel; Gregor Kuhlenbaümer; Elena Leca-Radu; Didier Goux; Lauren Fleming; Tom Van Agtmael; Hugues Chabriat; Françoise Chapon; Elisabeth Tournier-Lasserve
Journal:  Ann Neurol       Date:  2016-10-19       Impact factor: 10.422

6.  Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Authors:  Robin Lemmens; Alessandra Maugeri; Hans W M Niessen; An Goris; Thomas Tousseyn; Philippe Demaerel; Anniek Corveleyn; Wim Robberecht; Marjo S van der Knaap; Vincent N Thijs; Petra J G Zwijnenburg
Journal:  Hum Mol Genet       Date:  2012-10-12       Impact factor: 6.150

7.  Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL.

Authors:  C Hagel; C Groden; R Niemeyer; D Stavrou; H J Colmant
Journal:  Acta Neuropathol       Date:  2004-06-19       Impact factor: 17.088

8.  A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.

Authors:  Dominique Hervé; Hugues Chabriat; Mélanie Rigal; Marie-Amelie Dalloz; Aida Kawkabani Marchini; Jean De Lepeleire; Bertrand Fontaine; Chantal Ceuterick-de Groote; Nassira Alili; Manuele Mine; Audrey Delaforge; Marie-Germaine Bousser; Jean-Pierre Guichard; Jean-Jacques Martin; Françoise Gray; Elisabeth Tournier-Lasserve
Journal:  Neurology       Date:  2012-11-21       Impact factor: 9.910

9.  COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Authors:  Cassandre Labelle-Dumais; David J Dilworth; Emily P Harrington; Michelle de Leau; David Lyons; Zhyldyz Kabaeva; M Chiara Manzini; William B Dobyns; Christopher A Walsh; Daniel E Michele; Douglas B Gould
Journal:  PLoS Genet       Date:  2011-05-19       Impact factor: 5.917

10.  Fast and accurate long-read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2010-01-15       Impact factor: 6.937
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  8 in total

Review 1.  Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.

Authors:  Rufus O Akinyemi; Mayowa O Owolabi; Masafumi Ihara; Albertino Damasceno; Adesola Ogunniyi; Catherine Dotchin; Stella-Maria Paddick; Julius Ogeng'o; Richard Walker; Raj N Kalaria
Journal:  Brain Res Bull       Date:  2018-05-25       Impact factor: 4.077

Review 2.  Genetics of common cerebral small vessel disease.

Authors:  Constance Bordes; Muralidharan Sargurupremraj; Aniket Mishra; Stéphanie Debette
Journal:  Nat Rev Neurol       Date:  2022-01-05       Impact factor: 42.937

Review 3.  Genetic architecture of common non-Alzheimer's disease dementias.

Authors:  Rita Guerreiro; Elizabeth Gibbons; Miguel Tábuas-Pereira; Celia Kun-Rodrigues; Gustavo C Santo; Jose Bras
Journal:  Neurobiol Dis       Date:  2020-05-19       Impact factor: 5.996

4.  A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.

Authors:  Hongyan Li; Wengui Yu; Qing Li; Chengfeng Wang; Wei Li; Zaiqiang Zhang; Shanshan Wang; Autongsha Wupuer; Xiao Hu; Kalibinuer Wumaier; Yi Zhu
Journal:  Transl Stroke Res       Date:  2021-08-20       Impact factor: 6.829

5.  The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.

Authors:  Xuewen Xiao; Lina Guo; Xinxin Liao; Yafang Zhou; Weiwei Zhang; Lu Zhou; Xin Wang; Xixi Liu; Hui Liu; Tianyan Xu; Yuan Zhu; Qijie Yang; Xiaoli Hao; Yingzi Liu; Junling Wang; Jinchen Li; Bin Jiao; Lu Shen
Journal:  CNS Neurosci Ther       Date:  2021-09-22       Impact factor: 5.243

6.  The presence of living endometrial cells in ovarian endometriotic cyst fluid may contribute to the recurrence of endometriosis after surgical excision of endometriomas.

Authors:  Xinxin Xu; Yichen Chen; Qin Yu; Jianzhang Wang; Ping Xu; Libo Zhu; Qiong Xu; Jing Zhang; Shuling Cui; Kewen Yu; Tiantian Li; Xinyue Guo; Xinmei Zhang
Journal:  J Ovarian Res       Date:  2022-07-30       Impact factor: 5.506

7.  Genetic analysis reveals novel variants for vascular cognitive impairment.

Authors:  Saana Mönkäre; Liina Kuuluvainen; Johanna Schleutker; Jose Bras; Susanna Roine; Minna Pöyhönen; Rita Guerreiro; Liisa Myllykangas
Journal:  Acta Neurol Scand       Date:  2022-03-20       Impact factor: 3.915

8.  Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1.

Authors:  Naoko Sakai; Masahiro Uemura; Taisuke Kato; Hiroaki Nozaki; Akihide Koyama; Shouichirou Ando; Hiroyuki Kamei; Motohiro Kato; Osamu Onodera
Journal:  Neurol Genet       Date:  2019-12-26
  8 in total

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