Associated Papers
Expression of genetic peripheral neuropathies in South African children.
Raga SV et al.
Neuromuscular Disorders : Nmd, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ et al.
Journal of Neuromuscular Diseases, 2021
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA et al.
Journal of Human Genetics, 2012
Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.
Subramanian VS et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2011
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Bosch AM et al.
Journal of Inherited Metabolic Disease, 2011
Exome sequencing in Brown-Vialetto-van Laere syndrome.
Johnson JO et al.
American Journal of Human Genetics, 2010
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Green P et al.
American Journal of Human Genetics, 2010