Results 71 to 80 of about 7,746,465 (115)

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses

, 2020
Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also ...
Geravandpoor, S., Bakhshandeh, M.K., Rabbani, B., Mahdieh, N., Soveizi, M., Navaeifar, M.R., Abbaskhanian, A.   +6 more
core  

Brown-Vialetto-Van Laere Syndrome 1 [PDF]

, 2020
openaire   +1 more source

Optic Neuropathy in Riboflavin Transporter Deficiency (Brown-Vialetto Van Lear syndrome)

, 2018
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, associated with mutations in the SLC52A2 and SLC52A3 genes, thought to be involved in the transport of riboflavin.
Kannan Narayana; Jaime Vengoechea; Michael Silver
core  

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran

Journal of Pediatric Neurosciences, 2013
Vahideh Toopchizadeh, Masood Ghahvechi Akbari, Afshin Habibzadeh   +2 more
doaj   +1 more source

Late-onset Brown-Vialetto-Van Laere Syndrome with Electrophysiological Findings

Cyprus Journal of Medical Sciences, 2023
Ferda Selçuk, Mustafa Ertaş
openaire   +1 more source

PP-053 A case with brown vialetto van laere syndrome

Poster Presentation
Durmuş Bora Çağer, Melike Ersoy
openaire   +1 more source

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The Audiovestibular Profile of Brown-Vialetto-Van Laere Syndrome

Journal of Laryngology and Otology, 2021
AbstractBackgroundBrown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory ...
T Sirimanna, R Omar
exaly   +3 more sources

Cochlear Implantation in Brown–Vialetto–Van-Laere syndrome

The Journal of Laryngology & Otology, 2010
AbstractObjective:To report outcomes for the first known cochlear implantation procedures in two patients with Brown–Vialetto–Van-Laere syndrome.Patients:Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with Brown–Vialetto–Van-Laere syndrome.
A R, Sinnathuray, D R, Watson, B, Fruhstorfer, J R, Olarte, J G, Toner   +4 more
openaire   +3 more sources

Brown-Vialetto-Van Laere Syndrome: Case Report and Literature Review

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2000
We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894.
Pamela Shaw, Sivakumar Sathasivam
exaly   +3 more sources

The Brown-Vialetto-Van Laere Syndrome: A Case Report and Literature Review

European Journal of Neurology, 1994
We describe a female presenting with a progressive bulbar palsy, deafness and respiratory failure necessitating long‐term ventilation. These clinical features are consistent with the Brown‐Vialetto‐van Laere syndrome, a rare, sometimes inherited progressive ponto‐bulbar neuronopathy with associated deafness.
R J Davenport
exaly   +3 more sources