Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
M Ciccolella, M Catteruccia, S Benedetti, I Moroni… - Neuromuscular …, 2012 - Elsevier
Brown–Vialetto–van Laere (BVVL) and Fazio–Londe (FL) are rare and clinically overlapping
motor neurons syndromes. Recently BVVL has been associated with mutations in …
motor neurons syndromes. Recently BVVL has been associated with mutations in …
[HTML][HTML] The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
AM Bosch, K Stroek, NG Abeling, HR Waterham… - Orphanet journal of rare …, 2012 - Springer
Abstract The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may
present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise …
present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise …
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients
P Malafronte, HB Clark… - Pediatric and …, 2013 - journals.sagepub.com
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare degenerative neurological disorder
characterized by pontobulbar palsy and sensorineural deafness. Since its initial description …
characterized by pontobulbar palsy and sensorineural deafness. Since its initial description …
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene
A Koy, F Pillekamp, T Hoehn, H Waterham, D Klee… - Pediatric …, 2012 - Elsevier
Brown-Vialetto-Van Laere syndrome (Online Mendelian Inheritance in Man number 211530)
is a neurodegenerative disorder characterized by pontobulbar palsy affecting cranial nerves …
is a neurodegenerative disorder characterized by pontobulbar palsy affecting cranial nerves …
[HTML][HTML] Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome
M Garg, SD Kulkarni, AU Hegde… - Journal of Pediatric …, 2018 - journals.lww.com
Abstract Brown–Vialetto–Van Laere (BVVL) syndrome is a rare motor neuron disorder of
childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an …
childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an …
[PDF][PDF] Brown‐Vialetto‐Van Laere syndrome and Fazio‐Londe disease–treatable motor neuron diseases of childhood
C Spagnoli, C De Sousa - Developmental Medicine & Child …, 2012 - academia.edu
Fazio-Londe disease and Brown-Vialetto-Van Laere syndrome belong to a spectrum of
progressive motor neuron diseases, classically distinguished by the presence of …
progressive motor neuron diseases, classically distinguished by the presence of …
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies
C Carreau, C Benoit, G Ahle, C Cauquil… - Journal of Neurology …, 2021 - jnnp.bmj.com
Objective Riboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2
genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a …
genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a …
Genetic, radiologic, and clinical variability in Brown-Vialetto-van Laere syndrome
IR Woodcock, MP Menezes, L Coleman… - Seminars in Pediatric …, 2018 - Elsevier
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor
neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency …
neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency …
[HTML][HTML] Brown–Vialetto–Van Laere syndrome: A rare case report of MND mimic
P Kranthi, BR Garuda, S Gopi, TS Kumar - Neurology India, 2020 - journals.lww.com
Abstract Brown‐Vialetto‐Van Laere Syndrome (BVVLS) is a rare disorder characterized by
progressive neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory …
progressive neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory …
Remarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome
JA Bashford, FA Chowdhury, CE Shaw - Practical neurology, 2017 - pn.bmj.com
The clinical diagnosis of Brown—Vialetto—Van Laere syndrome in this woman with rapidly
progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) …
progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) …