Useful Links and Research

 

 

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Links
Below are a selection of links we we hope you will find useful, we have tried to group them for ease of use. At times the medical papers can seem daunting, however should you have any questions regarding any of the information you read please feel free to ask us and we will do our best to answer your questions.

Research Documents 2016

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Research Documents 2015

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.

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

Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation.

Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology

Fazio Londe:A treatable disorder
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350224/

Research documents 2014

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.
http://www.ncbi.nlm.nih.gov/pubmed/25159929

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
http://www.ncbi.nlm.nih.gov/pubmed/24253200

HEALTH
Bionic Ears Can Help Regrow Auditory Nerves
http://news.discovery.com/human/health/bionic-ears-can-help-regrow-auditory-nerves-140423.htm#mkcpgn=rssnw

Research documents 2013

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.
http://www.ncbi.nlm.nih.gov/pubmed/23506902

Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in mice.
http://www.ncbi.nlm.nih.gov/pubmed/23911957

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
http://brain.oxfordjournals.org/content/early/2013/11/15/brain.awt315.full

Research documents 2012

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517535/

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026695/

Research documentation 2011

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome Tobias B. Haack, Christine Makowski, [...], and Holger Prokisch

Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report

Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome.

Research documentation before 2010

Anesthesia in Brown–Vialetto–Van Laere syndrome
http://onlinelibrary.wiley.com/doi/10.1111/j.1460-9592.2009.03156.x/abstract

Brown-Vialetto-Van Laere syndrome
http://www.ncbi.nlm.nih.gov/pubmed/18416855?dopt=AbstractPlus

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya.
http://www.ncbi.nlm.nih.gov/pubmed/20001484

Exome sequencing in Brown-Vialetto-van Laere syndrome
http://www.ncbi.nlm.nih.gov/pubmed/20920669

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
http://www.ncbi.nlm.nih.gov/pubmed/20206331

Deaf associations
http://www.ncds.co.uk
http://www.bda.org.uk

Other sites
http://www.bvvlinternational.org/