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Neurology, ISSN 0028-3878, 02/2018, Volume 90, Issue 7, pp. e625 - e631
Journal Article
SEMINARS IN PEDIATRIC NEUROLOGY, ISSN 1071-9091, 07/2018, Volume 26, pp. 10 - 14
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare... 
PEDIATRICS | MUTATIONS | VAN LAERE SYNDROME | CLINICAL NEUROLOGY
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 435 - 444
Journal Article
Pediatric Neurology, ISSN 0887-8994, 09/2018, Volume 86, pp. 77 - 78
Journal Article
VIROLOGY, ISSN 0042-6822, 07/2017, Volume 507, pp. 140 - 150
Porcine endogenous retrovirus-A (PERV-A), a gammaretrovirus, infects human cells in vitro, thus raising the potential risk of cross-species transmission in... 
PIGS | Viral entry | Xenotransplantation | ISLET XENOTRANSPLANTATION | Viral receptor | NO EVIDENCE | FUNCTIONAL-CHARACTERIZATION | GLYCOSYLATION | IDENTIFICATION | VAN LAERE SYNDROME | Porcine endogenous retrovirus | VIROLOGY | BIOARTIFICIAL LIVER | MUTATIONS | RIBOFLAVIN TRANSPORTER
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 03/2019, Volume 75, pp. 225.e9 - 225.e14
Mutations in the same gene are sometimes the cause of different clinically diagnosed neurologic disorders; this emphasizes interrelationships between various... 
ALS | Iran | C19orf12 | TARDBP | p.Gly348Cys | SLC52A3 | PROTEIN | FRONTOTEMPORAL DEMENTIA | NEURODEGENERATION | AMYOTROPHIC-LATERAL-SCLEROSIS | C9ORF72 | NEUROSCIENCES | VAN LAERE SYNDROME | GERIATRICS & GERONTOLOGY | HOMOZYGOSITY | TDP-43 | COMMON | ASSOCIATION | Nervous system diseases | Genetic aspects
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
Neuromuscular Disorders, ISSN 0960-8966, 09/2018, Volume 28, Issue 9, pp. 787 - 790
Inherited defects of vitamin B (riboflavin) metabolism may cause different phenotypes with common biochemical markers of multiple acyl-CoA dehydrogenase... 
Multiple acyl-CoA dehydrogenase deficiency | Riboflavin | Respiratory chain deficiency | Hypotonia | FLAD1 | FAD synthase deficiency | RIBOFLAVIN TRANSPORT | NEUROSCIENCES | VAN LAERE SYNDROME | DEFICIENCY | CLINICAL NEUROLOGY | Genetic aspects | Children | Diseases
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 01/2018, Volume 104, pp. 195 - 199
Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs... 
SLC52A2 gene | Cerebellar ataxias | Iran | SCABD2 | Novel mutation | RIBOFLAVIN | SPINOCEREBELLAR ATAXIA | HEREDITARY ATAXIAS | OTORHINOLARYNGOLOGY | PEDIATRICS | DEAFNESS | VAN LAERE SYNDROME | Deafness | Nervous system diseases | Analysis | Blindness | Genetic research | Development and progression | Genetic aspects
Journal Article
Cochlear Implants International, ISSN 1467-0100, 01/2019, Volume 20, Issue 1, pp. 31 - 38
Objective: Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder associated with auditory neuropathy (AN). The decision process for CI... 
Brown-Vialetto-Van Laere syndrome | Cochlear implantation | Auditory neuropathy | Retrospective study | Parental benefit | Riboflavin transporter deficiency | Outcomes | Auditory perception | Brown–Vialetto–Van Laere syndrome
Journal Article
Brain, ISSN 0006-8950, 11/2017, Volume 140, Issue 11, pp. 2820 - 2837
Journal Article
American journal of physiology. Regulatory, integrative and comparative physiology, ISSN 0363-6119, 04/2016, Volume 310, Issue 7, pp. R578 - R585
Journal Article