Results 61 to 70 of about 7,746,465 (115)

Table1_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.DOCX

, 2022
Purpose: This study reports the clinical and genetic features of Brown-Vialetto-Van Laere syndrome (BVVL) type 2 in a case of uniparental disomy of chromosome 8 in mainland China and analyzes the genotype-phenotype correlation through a review of the ...
Le Yang (345935), Ying Yang (24175), Fengyu Che (10762029), Yanyan Zheng (301716), Dong Wang (73290), Siyu Zhao (3761059), Yan Wang (15435)   +6 more
core   +1 more source

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome [PDF]

, 2013
Introduction Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India.
Houlden, H, Pandraud, Amelie, Mok, Kin, Houlden, Henry, Nalini, A, Pandraud, A, Mok, K, Nalini, Atchayaram   +7 more
core   +1 more source

Síndrome de Brown-Vialetto-Van Laere: reporte de primer caso peruano

, 2023
The Brown-Vialetto-Van Laere syndrome (BVVLS), also known as Riboflavin Transporter Deficiency, is an autosomal recessive neurodegenerative disorder that is infrequently observed.
Méndez Dávalos, Carlos, Martínez Esteban, Peggy, Mattos Castillo, Jair, Alvarez Toledo, Kelvin Harold   +3 more
core  

Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome

Neurosciences, 2012
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset.
Samira, Yadegari, Keyvan, Razmjoo, Shahriar, Nafissi   +2 more
openaire   +2 more sources

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease : two novel mutations

, 2013
Background: Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive pontobulbar palsy and sensorineural deafness. Causative mutations in genes encoding human riboflavin transporter 2 (hRFT2) and 3 (hRFT3) have been ...
A. D'Amico, D. Ronchi, M. Ciccolella, E. Bertini, G.P. Comi, M. Catteruccia, S. Petrini, S. Corti, A. Bordoni, R. Carrozzo, G. Tozzi, T. Rizza, C. Rizzo, M. Nizzardo   +13 more
core   +1 more source

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

, 2016
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene.
Hergüner, Özlem, Horoz, Ozden O., Kör, Deniz, Mungan, Neslihan O., ÖZGÜR HOROZ, ÖZDEN, Ceylaner, Serdar, Yildizdas, Dincer, Waterham, Hans, Coskun, Turgay   +8 more
core   +1 more source

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

, 2017
Descrevemos a primeira família brasileira com síndrome de Brown-Vialetto-van Laere. Os pacientes são três irmãs e uma sobrinha provenientes de casamentos consangüíneos, o que fortalece a hipótese de transmissão autossômica recessiva.
Cardoso, Francisco E.C., Malheiros, Jose Augusto, Camargos, Sarah Teixeira, Oliveira, Jose Teotonio de   +3 more
core  

Riboflavin transporter deficiency associated with a homozygous nonsense slc52a3 variant: first genotype–phenotype correlation and literature review

Revista Mexicana de Neurociencia
Objective: The objective of the study was to describe a rare case of riboflavin (RF) transporter deficiency (RTD) caused by a homozygous nonsense variant in SLC52A3 not previously associated with a detailed clinical phenotype, and to review the clinical ...
Erick L. Cuevas-García, Tania I. Alejandro-León, José O. Cornelio-Nieto, Pablo Valladares-Sánchez, Mario González-Medina, Rubicel Díaz-Martínez   +5 more
doaj  

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

, 2005
We report four siblings showing features of a pontobulbar palsy, a mixed spinal and upper motor neuropathy and variable deafness. The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive ...
Dipti, Subrahmanian, Crow, Yanick J., Livingston, John H., Miller, Mike, Childs, Anne Marie, Williams, Chris, Aggarwal, A. K.   +6 more
core   +1 more source

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

, 2011
Brown-Vialetto-Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter.
SATHIYA JAYAPAL, NADEEM HASAN, EDWARD BLAIR, TONY MCSHANE, SANDEEP JAYAWANT, JEREMY HULL, GEETHA ANAND, ZILLA HUMA, TARIQ ALI   +8 more
core   +1 more source