Literature DB >> 27624120

'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.

Paul Kollmann1,2, André Peeters3, Olivier Vanakker4, Yves Sznajer5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27624120     DOI： 10.1007/s00415-016-8280-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  11 in total

1.  COL4A1 mutation revealed by an isolated brain hemorrhage.

Authors:  Astrid Corlobe; Elisabeth Tournier-Lasserve; Manuele Mine; Nicolas Menjot de Champfleur; Clarisse Carra Dalliere; Xavier Ayrignac; Pierre Labauge; Caroline Arquizan
Journal:  Cerebrovasc Dis       Date:  2013-07-10       Impact factor: 2.762

2.  De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Authors:  Yuriko Yoneda; Kazuhiro Haginoya; Hiroshi Arai; Shigeo Yamaoka; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kenji Yokochi; Hitoshi Osaka; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

3.  COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Authors:  Marion Jeanne; Cassandre Labelle-Dumais; Jeff Jorgensen; W Berkeley Kauffman; Grazia M Mancini; Jack Favor; Valerie Valant; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

4.  COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

Authors:  Bence Gunda; Manuele Mine; Tibor Kovács; Csilla Hornyák; Dániel Bereczki; György Várallyay; Gábor Rudas; Marie-Pierre Audrezet; Elisabeth Tournier-Lasserve
Journal:  J Neurol       Date:  2014-01-05       Impact factor: 4.849

Review 5.  Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Authors:  Katayoun Vahedi; Sonia Alamowitch
Journal:  Curr Opin Neurol       Date:  2011-02       Impact factor: 5.710

6.  Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

Authors:  C Vilain; N Van Regemorter; A Verloes; P David; P Van Bogaert
Journal:  Am J Med Genet       Date:  2002-10-01

7.  Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.

Authors:  Marion Jeanne; Jeff Jorgensen; Douglas B Gould
Journal:  Circulation       Date:  2015-03-09       Impact factor: 29.690

8.  COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Authors:  Elly Verbeek; Marije E C Meuwissen; Frans W Verheijen; Paul P Govaert; Daniel J Licht; Debbie S Kuo; Cathryn J Poulton; Rachel Schot; Maarten H Lequin; Jeroen Dudink; Dicky J Halley; René I F de Coo; Jan C den Hollander; Renske Oegema; Douglas B Gould; Grazia M S Mancini
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

9.  COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Authors:  Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Yves Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
Journal:  N Engl J Med       Date:  2007-12-27       Impact factor: 91.245

Review 10.  COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Authors:  Debbie S Kuo; Cassandre Labelle-Dumais; Douglas B Gould
Journal:  Hum Mol Genet       Date:  2012-08-21       Impact factor: 6.150
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.