Literature DB >> 30420458

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

Ahmed K Bamaga1, Robi N Maamari2, Susan M Culican2, Marwan Shinawi2, Paul T Golumbek2.   

Abstract

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Year:  2018        PMID： 30420458      PMCID： PMC6260193          DOI： 10.1212/WNL.0000000000006498

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


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  10 in total

1.  Brown-Vialetto-Van Laere syndrome: a 28-year follow-up.

Authors:  A Davis; D Josifova; S Lloyd-Owen; A Radunovic; M Swash
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-10-06       Impact factor: 10.154

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

Authors:  Jeremy Cosgrove; Sayan Datta; Mark Busby
Journal:  Clin Neurol Neurosurg       Date:  2014-11-04       Impact factor: 1.876

3.  Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Authors:  Peter Green; Matthew Wiseman; Yanick J Crow; Henry Houlden; Shelley Riphagen; Jean-Pierre Lin; F Lucy Raymond; Anne-Marie Childs; Eamonn Sheridan; Sian Edwards; Dragana J Josifova
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

4.  Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

Authors:  Annet M Bosch; Nico G G M Abeling; Lodewijk Ijlst; Hennie Knoester; W Ludo van der Pol; Alida E M Stroomer; Ronald J Wanders; Gepke Visser; Frits A Wijburg; Marinus Duran; Hans R Waterham
Journal:  J Inherit Metab Dis       Date:  2010-11-26       Impact factor: 4.982

5.  Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Authors:  A Reghan Foley; Manoj P Menezes; Amelie Pandraud; Michael A Gonzalez; Ahmad Al-Odaib; Alexander J Abrams; Kumiko Sugano; Atsushi Yonezawa; Adnan Y Manzur; Joshua Burns; Imelda Hughes; B Gary McCullagh; Heinz Jungbluth; Ming J Lim; Jean-Pierre Lin; Andre Megarbane; J Andoni Urtizberea; Ayaz H Shah; Jayne Antony; Richard Webster; Alexander Broomfield; Joanne Ng; Ann A Mathew; James J O'Byrne; Eva Forman; Mariacristina Scoto; Manish Prasad; Katherine O'Brien; Simon Olpin; Marcus Oppenheim; Iain Hargreaves; John M Land; Min X Wang; Kevin Carpenter; Rita Horvath; Volker Straub; Monkol Lek; Wendy Gold; Michael O Farrell; Sebastian Brandner; Rahul Phadke; Kazuo Matsubara; Michael L McGarvey; Steven S Scherer; Peter S Baxter; Mary D King; Peter Clayton; Shamima Rahman; Mary M Reilly; Robert A Ouvrier; John Christodoulou; Stephan Züchner; Francesco Muntoni; Henry Houlden
Journal:  Brain       Date:  2013-11-19       Impact factor: 13.501

6.  Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Authors:  Janel O Johnson; J Raphael Gibbs; Andre Megarbane; J Andoni Urtizberea; Dena G Hernandez; A Reghan Foley; Sampath Arepalli; Amelie Pandraud; Javier Simón-Sánchez; Peter Clayton; Mary M Reilly; Francesco Muntoni; Yevgeniya Abramzon; Henry Houlden; Andrew B Singleton
Journal:  Brain       Date:  2012-06-26       Impact factor: 13.501

7.  Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Authors:  Tobias B Haack; Christine Makowski; Yoshiaki Yao; Elisabeth Graf; Maja Hempel; Thomas Wieland; Ulrike Tauer; Uwe Ahting; Johannes A Mayr; Peter Freisinger; Hiroki Yoshimatsu; Ken Inui; Tim M Strom; Thomas Meitinger; Atsushi Yonezawa; Holger Prokisch
Journal:  J Inherit Metab Dis       Date:  2012-08-03       Impact factor: 4.982

8.  Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Authors:  Vandana Shashi; Slavé Petrovski; Kelly Schoch; Rebecca Crimian; Laura E Case; Roha Khalid; Maysantoine A El-Dairi; Yong-Hui Jiang; Mohamad A Mikati; David B Goldstein
Journal:  Cold Spring Harb Mol Case Stud       Date:  2015-10

Review 9.  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

10.  Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Authors:  Andreea Manole; Zane Jaunmuktane; Iain Hargreaves; Marthe H R Ludtmann; Vincenzo Salpietro; Oscar D Bello; Simon Pope; Amelie Pandraud; Alejandro Horga; Renata S Scalco; Abi Li; Balasubramaniem Ashokkumar; Charles M Lourenço; Simon Heales; Rita Horvath; Patrick F Chinnery; Camilo Toro; Andrew B Singleton; Thomas S Jacques; Andrey Y Abramov; Francesco Muntoni; Michael G Hanna; Mary M Reilly; Tamas Revesz; Dimitri M Kullmann; James E C Jepson; Henry Houlden
Journal:  Brain       Date:  2017-11-01       Impact factor: 13.501
  10 in total
  3 in total

Review 1.  Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies.

Authors:  Maria Tolomeo; Alessia Nisco; Maria Barile
Journal:  Methods Mol Biol       Date:  2021

Review 2.  Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.

Authors:  Maria Tolomeo; Alessia Nisco; Piero Leone; Maria Barile
Journal:  Int J Mol Sci       Date:  2020-07-26       Impact factor: 5.923

3.  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
  3 in total

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