Literature DB >> 20733150

Acute urinary retention due to a novel collagen COL4A1 mutation.

T Rouaud1, P Labauge, E Tournier Lasserve, M Mine, M Coustans, V Deburghgraeve, G Edan.   

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Year:  2010        PMID： 20733150     DOI： 10.1212/WNL.0b013e3181eee440

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

Review 1.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

2.  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

Review 3.  Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Authors:  Marion Jeanne; Douglas B Gould
Journal:  Matrix Biol       Date:  2016-10-26       Impact factor: 11.583

Review 4.  Stroke-related translational research.

Authors:  Louis R Caplan; Juan Arenillas; Steven C Cramer; Anne Joutel; Eng H Lo; James Meschia; Sean Savitz; Elizabeth Tournier-Lasserve
Journal:  Arch Neurol       Date:  2011-05-09

5.  COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Authors:  Yi-Chinn Weng; Akshata Sonni; Cassandre Labelle-Dumais; Michelle de Leau; W Berkeley Kauffman; Marion Jeanne; Alessandro Biffi; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Ann Neurol       Date:  2012-04       Impact factor: 10.422

6.  Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.

Authors:  Mao Mao; Richard S Smith; Marcel V Alavi; Jeffrey K Marchant; Mihai Cosma; Richard T Libby; Simon W M John; Douglas B Gould
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-10       Impact factor: 4.799

7.  Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Authors:  B Deml; L M Reis; M Maheshwari; C Griffis; D Bick; E V Semina
Journal:  Clin Genet       Date:  2014-04-12       Impact factor: 4.438

8.  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

Review 9.  Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.

Authors:  Midrelle E Noumbissi; Bianca Galasso; Monique F Stins
Journal:  Fluids Barriers CNS       Date:  2018-04-23

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
  10 in total

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