Literature DB >> 22211384

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.

Carlotta Spagnoli1, Carlos De Sousa.   

Abstract

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Substances：

Year:  2011        PMID： 22211384     DOI： 10.1111/j.1469-8749.2011.04179.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  5 in total

Review 1.  Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Authors:  Maryam Beheshtian; Mojgan Babanejad; Hela Azaiez; Niloofar Bazazzadegan; Diana Kolbe; Christina Sloan-Heggen; Sanaz Arzhangi; Kevin Booth; Marzieh Mohseni; Kathy Frees; Mohammad Hossein Azizi; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard Jh Smith; Hossein Najmabadi
Journal:  Arch Iran Med       Date:  2016-10-01       Impact factor: 1.354

2.  Fazio Londe syndrome: A treatable disorder.

Authors:  Poovazhagi Varadarajan; Vimal Thayanathi; Leema C Pauline
Journal:  Ann Indian Acad Neurol       Date:  2015 Jan-Mar       Impact factor: 1.383

3.  First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.

Authors:  Siyu Zhao; Fengyu Che; Le Yang; Yanyan Zheng; Dong Wang; Ying Yang; Yan Wang
Journal:  Front Genet       Date:  2022-09-15       Impact factor: 4.772

4.  Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2.

Authors:  Arundhati Biswas; Daniel Elmatari; Jason Rothman; Craig W LaMunyon; Hamid M Said
Journal:  PLoS One       Date:  2013-03-06       Impact factor: 3.240

Review 5.  Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

Authors:  Bregje Jaeger; Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2016-03-14       Impact factor: 4.982
  5 in total

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