Literature DB >> 25462087

Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

Jeremy Cosgrove1, Sayan Datta2, Mark Busby2.   

Abstract

Entities:  

Keywords:  Brown–Vialetto–Van Laere; Neuromuscular disease; Riboflavin

Mesh：

Substances：

Year:  2014        PMID： 25462087     DOI： 10.1016/j.clineuro.2014.10.016

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  7 in total

1.  Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy.

Authors:  Ahmed K Bamaga; Robi N Maamari; Susan M Culican; Marwan Shinawi; Paul T Golumbek
Journal:  Neurology       Date:  2018-11-13       Impact factor: 9.910

2.  Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome.

Authors:  James A Bashford; Fahmida A Chowdhury; Chris E Shaw
Journal:  Pract Neurol       Date:  2016-10-24

3.  Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.

Authors:  Mohammad Arif Hossain; Abdulrahman Obaid; Mohammad Rifai; Hala Alem; Tarek Hazwani; Ali Al Shehri; Majid Alfadhel; Yoshikatsu Eto; Wafaa Eyaid
Journal:  Hum Genome Var       Date:  2017-05-25

4.  A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.

Authors:  Christophe Carreau; Timothée Lenglet; Isabelle Mosnier; Ghizlene Lahlou; Guillaume Fargeot; Nicolas Weiss; Sophie Demeret; François Salachas; Alice Veauville-Merllié; Cécile Acquaviva; Yann Nadjar
Journal:  Ann Clin Transl Neurol       Date:  2020-02-05       Impact factor: 4.511

5.  Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.

Authors:  Maria Stella Arantes do Amaral; Eduardo T Massuda; Guilherme Henrique Mitikami Fenólio; Ana Cláudia Mirândola Barbosa Reis; Miguel Angelo Hyppolito
Journal:  J Int Adv Otol       Date:  2022-03       Impact factor: 1.316

Review 6.  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

7.  Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.

Authors:  Fiorella Colasuonno; Alessia Niceforo; Chiara Marioli; Anna Fracassi; Fabrizia Stregapede; Keith Massey; Marco Tartaglia; Enrico Bertini; Claudia Compagnucci; Sandra Moreno
Journal:  Oxid Med Cell Longev       Date:  2020-08-12       Impact factor: 6.543
  7 in total

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