Results 101 to 110 of about 7,746,465 (115)

Brown-Vialetto-van Laere syndrome; the first Turkish case.

Acta neurologica Belgica, 2005
We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a ...
Omer Faruk, Aydin, Dilek, Ozçelikel, Nesrin, Senbil, Y K Yavuz, Gürer   +3 more
openaire   +1 more source

A Case Report of Sudden-Onset Auditory Neuropathy Spectrum Disorder Associated With Brown-Vialetto-Van Laere Syndrome (Riboflavin Transporter Deficiency)

International Journal of Audiology, 2022
Elif Ayanoglu Aksoy
exaly  

Autosomal dominant Brown–Vialetto–Van Laere syndrome with UBQLN1 mutation

Journal of the Neurological Sciences, 2013
R Spataro, FL Conforti, R Mazzei, V La Bella   +3 more
openaire   +4 more sources

Anesthesia in Brown–Vialetto–Van Laere syndrome

Pediatric Anesthesia, 2009
openaire   +1 more source

Brown-Vialetto-Van Laere Syndrome: Clinical and Neuroradiological Findings of a Genetically Proven Patient

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014
Andrea Rossi, Luca Roccatagliata, Monica Bandettini di Poggio   +2 more
exaly  

Cochlear Implantation in Children With Auditory Neuropathy: Lessons From Brown–Vialetto–Van Laere Syndrome

Cochlear Implants International, 2019
Simone Schaefer, Iain Bruce
exaly  

Brown-Vialetto-Van Laere Syndrome: Clinical and Neuropathologic Findings With Immunohistochemistry for C20orf54 in Three Affected Patients

Pediatric and Developmental Pathology, 2013
Kimmo Hatanpaa, H Brent Clark, Jack Raisanen   +2 more
exaly  

Brown Vialetto Van Laere [BVVL] Syndrome

Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +1 more source

A Case of Brown-Vialetto-Van Laere Syndrome Due to a Novel Mutation in SLC52A3 Gene

Child Neurology Open, 2017
Beth A Pletcher, Sue Ming
exaly  

Auditory Neuropathy Spectrum Disorder With Brown–Vialetto–Van Laere Syndrome: Challenges in Hearing Rehabilitation

Journal of Laryngology and Otology, 2015
P Naina, Mathew Alexander
exaly