X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
pontobulbar palsy (23) 23
humans (22) 22
deafness (19) 19
brown-vialetto-van laere syndrome (18) 18
female (16) 16
index medicus (16) 16
clinical neurology (14) 14
bulbar palsy, progressive - genetics (13) 13
male (13) 13
hearing loss, sensorineural - genetics (11) 11
adolescent (9) 9
vanlaere-syndrome (9) 9
neurosciences (8) 8
bulbar palsy, progressive - diagnosis (7) 7
child (7) 7
child, preschool (7) 7
vanlaere syndrome (7) 7
adult (6) 6
bulbar palsy, progressive - drug therapy (6) 6
hearing loss, sensorineural - diagnosis (6) 6
membrane transport proteins - genetics (6) 6
progressive bulbar paralysis (6) 6
riboflavin - therapeutic use (6) 6
c20orf54 (5) 5
hearing loss, sensorineural - drug therapy (5) 5
inheritance (5) 5
magnetic resonance imaging (5) 5
motor-neuron disease (5) 5
mutation (5) 5
mutation - genetics (5) 5
onset (5) 5
pediatrics (5) 5
sensorineural deafness (5) 5
autosomal recessive inheritance (4) 4
bulbar palsy, progressive - physiopathology (4) 4
disease (4) 4
fazio-londe-disease (4) 4
genetics (4) 4
hearing loss, sensorineural - physiopathology (4) 4
nervous system diseases (4) 4
paralysis (4) 4
pedigree (4) 4
receptors, g-protein-coupled - genetics (4) 4
riboflavin (4) 4
syndrome (4) 4
young adult (4) 4
brain - pathology (3) 3
bulbar palsy, progressive - complications (3) 3
bulbar palsy, progressive - therapy (3) 3
childhood (3) 3
genetic aspects (3) 3
genetics & heredity (3) 3
genotype (3) 3
hearing loss, sensorineural - therapy (3) 3
infant (3) 3
muscular-atrophy (3) 3
mutations (3) 3
neurology (3) 3
palsy (3) 3
abridged index medicus (2) 2
aged (2) 2
article (2) 2
ataxia (2) 2
brain (2) 2
bulbar palsy (2) 2
bulbar palsy, progressive (2) 2
central pain (2) 2
deafness - complications (2) 2
deafness - genetics (2) 2
disease progression (2) 2
dose-response relationship, drug (2) 2
facial pain (2) 2
family health (2) 2
genes (2) 2
hearing loss, sensorineural (2) 2
hearing loss, sensorineural - complications (2) 2
immunoglobulins (2) 2
india (2) 2
medicine (2) 2
medicine, research & experimental (2) 2
middle aged (2) 2
motor neuron disease (2) 2
motor neuron disease - physiopathology (2) 2
neural conduction (2) 2
neurologic examination (2) 2
pharmacology (2) 2
phenotype (2) 2
pontine pain (2) 2
pontine paralysis (2) 2
pontobulbar pain (2) 2
progressive pontobulbar palsy (2) 2
review (2) 2
riboflavin - administration & dosage (2) 2
riboflavin supplementation (2) 2
riboflavin transporter (2) 2
sequence analysis, dna (2) 2
slc52a2 (2) 2
slc52a3 (2) 2
spinal muscular-atrophy (2) 2
vialetto-van-laere (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 435 - 444
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 44 - 56
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in... 
Brown-Vialetto-Van Laere syndrome | RFVT2 | riboflavin therapy | childhood neuronopathy | SLC52A2 | VIALETTO-VAN-LAERE | PONTOBULBAR PALSY | VANLAERE SYNDROME | AUTOSOMAL RECESSIVE INHERITANCE | FAZIO-LONDE-DISEASE | PROGRESSIVE BULBAR PARALYSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | OVERLAP | DEAFNESS | BRAIN | Ataxia | Original
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 22, Issue 12, pp. 1075 - 1082
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 02/2012, Volume 54, Issue 2, pp. 187 - 189
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... 
PEDIATRICS | DEAFNESS | PONTOBULBAR PALSY | CLINICAL NEUROLOGY | DISEASE | Dose-Response Relationship, Drug | Bulbar Palsy, Progressive - drug therapy | Administration, Oral | Humans | Female | Infant | Hearing Loss, Sensorineural - drug therapy | Vitamin B Complex - administration & dosage | Riboflavin - administration & dosage
Journal Article
SEMINARS IN PEDIATRIC NEUROLOGY, ISSN 1071-9091, 07/2018, Volume 26, pp. 2 - 9
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory... 
MIGRAINE PROPHYLAXIS | NEURONOPATHY | TRANSPORTER | PONTOBULBAR PALSY | HIGH-DOSE RIBOFLAVIN | PEDIATRICS | DEAFNESS | MUTATIONS | CHILDHOOD | BRAIN | CLINICAL NEUROLOGY | FAZIO-LONDE DISEASE
Journal Article
Journal of Laryngology and Otology, ISSN 0022-2151, 05/2015, Volume 129, Issue 5, pp. 504 - 508
Journal Article