Literature DB >> 8474605

Brown-Vialetto-Van Laere syndrome.

D A Francis1, J R Ponsford, C M Wiles, P K Thomas, L W Duchen.   

Abstract

The clinical and pathological findings of a male with the Brown-Vialetto-Van Laere syndrome are described. This rare and fatal affection of the nervous system involves mainly the brain stem with the prominent and early manifestation of sensorineural deafness. Increased awareness and documentation of this disorder has added information on the mode of inheritance.

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Year:  1993        PMID： 8474605     DOI： 10.1111/j.1365-2990.1993.tb00409.x

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


  5 in total

1.  A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder.

Authors:  Başak Mutlu; Merve Torun Topçu; Ayça Çiprut
Journal:  Turk Arch Otorhinolaryngol       Date:  2019-12-01

2.  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

3.  Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Authors:  Federica Rizzo; Agnese Ramirez; Claudia Compagnucci; Sabrina Salani; Valentina Melzi; Andreina Bordoni; Francesco Fortunato; Alessia Niceforo; Nereo Bresolin; Giacomo P Comi; Enrico Bertini; Monica Nizzardo; Stefania Corti
Journal:  Sci Rep       Date:  2017-04-06       Impact factor: 4.379

4.  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

Review 5.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123
  5 in total

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