Literature DB >> 21246605

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.

Patricia Combes, Nadège Kammoun, Aurélie Monnier, Céline Gonthier-Guéret, Geneviève Giraud, Enrico Bertini, Triki Chahnez, Faiza Fakhfakh, Odile Boespflug-Tanguy, Catherine Vaurs-Barrière.   

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Year:  2011        PMID： 21246605     DOI： 10.1002/ana.22295

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  4 in total

1.  A new mutation in GJC2 associated with subclinical leukodystrophy.

Authors:  Charles K Abrams; Steven S Scherer; Rafael Flores-Obando; Mona M Freidin; Sarah Wong; Eleonora Lamantea; Laura Farina; Vidmer Scaioli; Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2014-07-25       Impact factor: 4.849

2.  GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Authors:  Leo Gotoh; Ken Inoue; Guy Helman; Sara Mora; Kiran Maski; Janet S Soul; Miriam Bloom; Sarah H Evans; Yu-Ichi Goto; Ljubica Caldovic; Grace M Hobson; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2013-12-16       Impact factor: 4.797

3.  Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Authors:  Roberta Biancheri; Camillo Rosano; Laura Denegri; Eleonora Lamantea; Francesca Pinto; Federica Lanza; Mariasavina Severino; Mirella Filocamo
Journal:  Eur J Hum Genet       Date:  2012-06-06       Impact factor: 4.246

Review 4.  Hypomyelinating leukodystrophies - unravelling myelin biology.

Authors:  Nicole I Wolf; Charles Ffrench-Constant; Marjo S van der Knaap
Journal:  Nat Rev Neurol       Date:  2020-12-15       Impact factor: 42.937
  4 in total

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