BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010;86:485-489. [PMID: 20206331 DOI: 10.1016/j.ajhg.2010.02.006] [Cited by in Crossref: 131] [Cited by in F6Publishing: 114] [Article Influence: 10.9] [Reference Citation Analysis]
Number Citing Articles
1 Heydari A, Doostan F, Khoshnood H, Sheibani H. Water-soluble cationic poly(β-cyclodextrin-co-guanidine) as a controlled vitamin B 2 delivery carrier. RSC Adv 2016;6:33267-78. [DOI: 10.1039/c6ra01011c] [Cited by in Crossref: 21] [Cited by in F6Publishing: 1] [Article Influence: 3.5] [Reference Citation Analysis]
2 Babanejad M, Adeli OA, Nikzat N, Beheshtian M, Azarafra H, Sadeghnia F, Mohseni M, Najmabadi H, Kahrizi K. SLC52A2 mutations cause SCABD2 phenotype: A second report. International Journal of Pediatric Otorhinolaryngology 2018;104:195-9. [DOI: 10.1016/j.ijporl.2017.11.014] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
3 Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet 2012;21:3435-48. [PMID: 22611163 DOI: 10.1093/hmg/dds175] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 5.3] [Reference Citation Analysis]
4 Subramanian VS, Ghosal A, Subramanya SB, Lytle C, Said HM. Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine. Am J Physiol Gastrointest Liver Physiol 2013;304:G741-8. [PMID: 23413253 DOI: 10.1152/ajpgi.00018.2013] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
5 Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med 2013;34:693-701. [PMID: 23506902 DOI: 10.1016/j.mam.2012.07.014] [Cited by in Crossref: 89] [Cited by in F6Publishing: 73] [Article Influence: 9.9] [Reference Citation Analysis]
6 Sinha T, Naash MI, Al-Ubaidi MR. Flavins Act as a Critical Liaison Between Metabolic Homeostasis and Oxidative Stress in the Retina. Front Cell Dev Biol 2020;8:861. [PMID: 32984341 DOI: 10.3389/fcell.2020.00861] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
7 Rizzo F, Ramirez A, Compagnucci C, Salani S, Melzi V, Bordoni A, Fortunato F, Niceforo A, Bresolin N, Comi GP, Bertini E, Nizzardo M, Corti S. Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin. Sci Rep 2017;7:46271. [PMID: 28382968 DOI: 10.1038/srep46271] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
8 Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012;7:83. [PMID: 23107375 DOI: 10.1186/1750-1172-7-83] [Cited by in Crossref: 77] [Cited by in F6Publishing: 64] [Article Influence: 7.7] [Reference Citation Analysis]
9 Eli M, Li DS, Zhang WW, Kong B, Du CS, Wumar M, Mamtimin B, Sheyhidin I, Hasim A. Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer. World J Gastroenterol 2012; 18(24): 3112-3118 [PMID: 22791947 DOI: 10.3748/wjg.v18.i24.3112] [Cited by in CrossRef: 17] [Cited by in F6Publishing: 14] [Article Influence: 1.7] [Reference Citation Analysis]
10 Sabui S, Subramanian VS, Pham Q, Said HM. Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology. Am J Physiol Cell Physiol 2019;316:C805-14. [PMID: 30892938 DOI: 10.1152/ajpcell.00029.2019] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
11 Balasubramaniam S, Christodoulou J, Rahman S. Disorders of riboflavin metabolism. J Inherit Metab Dis 2019;42:608-19. [PMID: 30680745 DOI: 10.1002/jimd.12058] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 8.7] [Reference Citation Analysis]
12 Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016;39:559-64. [PMID: 26973221 DOI: 10.1007/s10545-016-9924-2] [Cited by in Crossref: 54] [Cited by in F6Publishing: 45] [Article Influence: 9.0] [Reference Citation Analysis]
13 Thulasi V, Veerapandiyan A, Pletcher BA, Tong CM, Ming X. A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. Child Neurol Open 2017;4:2329048X17725610. [PMID: 28856173 DOI: 10.1177/2329048X17725610] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Udhayabanu T, Manole A, Rajeshwari M, Varalakshmi P, Houlden H, Ashokkumar B. Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. J Clin Med 2017;6:E52. [PMID: 28475111 DOI: 10.3390/jcm6050052] [Cited by in Crossref: 37] [Cited by in F6Publishing: 34] [Article Influence: 7.4] [Reference Citation Analysis]
15 Shi K, Shi Z, Yan H, Wang X, Yang Y, Xiong H, Gu Q, Wu Y, Jiang Y, Wang J. A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. BMC Med Genet 2019;20:76. [PMID: 31064337 DOI: 10.1186/s12881-019-0811-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
16 Jin C, Yonezawa A, Yoshimatsu H, Imai S, Koyanagi M, Yamanishi K, Nakagawa S, Itohara K, Omura T, Nakagawa T, Nagai J, Matsubara K. Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice. Sci Rep 2020;10:18443. [PMID: 33116204 DOI: 10.1038/s41598-020-75601-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
17 Menezes MP, Farrar MA, Webster R, Antony J, O'Brien K, Ouvrier R, Kiernan MC, Burns J, Vucic S. Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. Clin Neurophysiol 2016;127:911-8. [PMID: 26092362 DOI: 10.1016/j.clinph.2015.05.012] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
18 Cosgrove J, Datta S, Busby M. Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. Clin Neurol Neurosurg 2015;128:1-3. [PMID: 25462087 DOI: 10.1016/j.clineuro.2014.10.016] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 1.6] [Reference Citation Analysis]
19 Hossain MA, Obaid A, Rifai M, Alem H, Hazwani T, Al Shehri A, Alfadhel M, Eto Y, Eyaid W. Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula. Hum Genome Var 2017;4:17018. [PMID: 28580161 DOI: 10.1038/hgv.2017.18] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
20 Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet 2016;98:1130-45. [PMID: 27259049 DOI: 10.1016/j.ajhg.2016.04.006] [Cited by in Crossref: 83] [Cited by in F6Publishing: 66] [Article Influence: 16.6] [Reference Citation Analysis]
21 Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014;137:44-56. [PMID: 24253200 DOI: 10.1093/brain/awt315] [Cited by in Crossref: 105] [Cited by in F6Publishing: 86] [Article Influence: 11.7] [Reference Citation Analysis]
22 González-Pérez P, Lu Y, Chian RJ, Sapp PC, Tanzi RE, Bertram L, McKenna-Yasek D, Gao FB, Brown RH Jr. Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiol Dis 2012;48:391-8. [PMID: 22766032 DOI: 10.1016/j.nbd.2012.06.018] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 1.7] [Reference Citation Analysis]
23 Kuszak AJ, Espey MG, Falk MJ, Holmbeck MA, Manfredi G, Shadel GS, Vernon HJ, Zolkipli-Cunningham Z. Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annu Rev Pathol 2018;13:163-91. [PMID: 29099651 DOI: 10.1146/annurev-pathol-020117-043644] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.6] [Reference Citation Analysis]
24 Biswas A, Elmatari D, Rothman J, LaMunyon CW, Said HM. Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2. PLoS One 2013;8:e58190. [PMID: 23483992 DOI: 10.1371/journal.pone.0058190] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 0.9] [Reference Citation Analysis]
25 Horvath R. Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10). J Inherit Metab Dis 2012;35:679-87. [DOI: 10.1007/s10545-011-9434-1] [Cited by in Crossref: 52] [Cited by in F6Publishing: 44] [Article Influence: 5.2] [Reference Citation Analysis]
26 Liu Z, Peng Q, Li J, Rao C, Lu X. BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene. Clin Chim Acta 2021;523:402-6. [PMID: 34737166 DOI: 10.1016/j.cca.2021.10.031] [Reference Citation Analysis]
27 Thakur K, Tomar SK, Singh AK, Mandal S, Arora S. Riboflavin and health: A review of recent human research. Crit Rev Food Sci Nutr 2017;57:3650-60. [PMID: 27029320 DOI: 10.1080/10408398.2016.1145104] [Cited by in Crossref: 67] [Cited by in F6Publishing: 56] [Article Influence: 16.8] [Reference Citation Analysis]
28 Lakhan R, Subramanian VS, Said HM. Role of MicroRNA-423-5p in posttranscriptional regulation of the intestinal riboflavin transporter-3. Am J Physiol Gastrointest Liver Physiol 2017;313:G589-98. [PMID: 28912250 DOI: 10.1152/ajpgi.00238.2017] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
29 Leone P, Galluccio M, Quarta S, Anoz-Carbonell E, Medina M, Indiveri C, Barile M. Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding. Int J Mol Sci 2019;20:E6203. [PMID: 31835305 DOI: 10.3390/ijms20246203] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 1.7] [Reference Citation Analysis]
30 Malafronte P, Clark HB, Castaneda-Sanchez I, Raisanen J, Hatanpaa KJ. Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. Pediatr Dev Pathol 2013;16:364-71. [PMID: 23688382 DOI: 10.2350/13-02-1299-CR.1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
31 Peeters K, Chamova T, Jordanova A. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain 2014;137:2879-96. [PMID: 24970098 DOI: 10.1093/brain/awu169] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 4.6] [Reference Citation Analysis]
32 Udhayabanu T, Karthi S, Mahesh A, Varalakshmi P, Manole A, Houlden H, Ashokkumar B. Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis. Mol Cell Biochem 2018;440:147-56. [PMID: 28836047 DOI: 10.1007/s11010-017-3163-1] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 1.6] [Reference Citation Analysis]
33 Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B; FORGE Canada Consortium. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle Nerve 2014;50:775-9. [PMID: 24616084 DOI: 10.1002/mus.24224] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 1.9] [Reference Citation Analysis]
34 Tolomeo M, Nisco A, Leone P, Barile M. Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy. Int J Mol Sci 2020;21:E5310. [PMID: 32722651 DOI: 10.3390/ijms21155310] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
35 Garg M, Kulkarni SD, Hegde AU, Shah KN. Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. J Pediatr Neurosci 2018;13:471-3. [PMID: 30937093 DOI: 10.4103/JPN.JPN_131_17] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
36 Subramanian VS, Kapadia R, Ghosal A, Said HM. Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. Nutr Metab (Lond) 2015;12:13. [PMID: 25798182 DOI: 10.1186/s12986-015-0008-3] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
37 Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. Neurobiol Aging 2021;99:102.e1-102.e10. [PMID: 33189404 DOI: 10.1016/j.neurobiolaging.2020.09.021] [Reference Citation Analysis]
38 Yoshimatsu H, Yonezawa A, Yamanishi K, Yao Y, Sugano K, Nakagawa S, Imai S, Omura T, Nakagawa T, Yano I, Masuda S, Inui K, Matsubara K. Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. Sci Rep 2016;6:27557. [PMID: 27272163 DOI: 10.1038/srep27557] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
39 Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. Mol Genet Metab 2016;117:393-400. [PMID: 26846157 DOI: 10.1016/j.ymgme.2016.01.007] [Cited by in Crossref: 95] [Cited by in F6Publishing: 86] [Article Influence: 15.8] [Reference Citation Analysis]
40 Intoh A, Suzuki N, Koszka K, Eggan K. SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. Hum Mol Genet 2016;25:1814-23. [PMID: 26976849 DOI: 10.1093/hmg/ddw053] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
41 Gowda VK, Udhayabanu T, Varalakshmi P, Srinivasan VM, Ashokkumar B. Fazio-Londe syndrome in siblings from India with different phenotypes. Brain and Development 2018;40:582-6. [DOI: 10.1016/j.braindev.2018.02.010] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
42 Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E. Large-scale whole-genome sequencing of the Icelandic population. Nat Genet. 2015;47:435-444. [PMID: 25807286 DOI: 10.1038/ng.3247] [Cited by in Crossref: 463] [Cited by in F6Publishing: 372] [Article Influence: 66.1] [Reference Citation Analysis]
43 Jin C, Yonezawa A. Recent advances in riboflavin transporter RFVT and its genetic disease. Pharmacol Ther 2021;:108023. [PMID: 34662687 DOI: 10.1016/j.pharmthera.2021.108023] [Reference Citation Analysis]
44 Subramanian VS, Lambrecht N, Lytle C, Said HM. Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption. Am J Physiol Gastrointest Liver Physiol 2016;310:G285-93. [PMID: 26660539 DOI: 10.1152/ajpgi.00340.2015] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
45 Anderson P, Schaefer S, Henderson L, Bruce IA. Cochlear implantation in children with auditory neuropathy: Lessons from Brown–Vialetto–Van Laere syndrome. Cochlear Implants International 2018;20:31-8. [DOI: 10.1080/14670100.2018.1534035] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
46 Bennett MJ. Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD). J Inherit Metab Dis 2012;35:941-2. [PMID: 22976761 DOI: 10.1007/s10545-012-9519-5] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
47 Subramanian VS, Sabui S, Heskett CW, Said HM. Sodium Butyrate Enhances Intestinal Riboflavin Uptake via Induction of Expression of Riboflavin Transporter-3 (RFVT3). Dig Dis Sci 2019;64:84-92. [PMID: 30276569 DOI: 10.1007/s10620-018-5305-z] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
48 da Silva-júnior FP, de Deus Moura R, Rosemberg S, Marchiori PE, Castro LHM. Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report. Journal of the Neurological Sciences 2011;300:155-6. [DOI: 10.1016/j.jns.2010.10.010] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
49 Naz S. Molecular genetic landscape of hereditary hearing loss in Pakistan. Hum Genet 2021. [PMID: 34308486 DOI: 10.1007/s00439-021-02320-0] [Reference Citation Analysis]
50 Ciccolella M, Catteruccia M, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L, Bizzi A, D’amico A, Fattori F, Salsano ML, Pastore A, Tozzi G, Piemonte F, Bertini E. Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study. Neuromuscular Disorders 2012;22:1075-82. [DOI: 10.1016/j.nmd.2012.05.007] [Cited by in Crossref: 30] [Cited by in F6Publishing: 25] [Article Influence: 3.0] [Reference Citation Analysis]
51 Alavi A, Nafissi S, Rohani M, Shahidi G, Zamani B, Shamshiri H, Safari I, Elahi E. Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients. Neurobiol Aging 2014;35:267.e1-7. [PMID: 23962495 DOI: 10.1016/j.neurobiolaging.2013.07.016] [Cited by in Crossref: 22] [Cited by in F6Publishing: 23] [Article Influence: 2.4] [Reference Citation Analysis]
52 Bandettini Di Poggio M, Monti Bragadin M, Reni L, Doria-Lamba L, Cereda C, Pardini M, Roccatagliata L, Rossi A, Schenone A. Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. Amyotroph Lateral Scler Frontotemporal Degener 2014;15:141-4. [PMID: 24079556 DOI: 10.3109/21678421.2013.837931] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
53 Anandam KY, Alwan OA, Subramanian VS, Srinivasan P, Kapadia R, Said HM. Effect of the proinflammatory cytokine TNF-α on intestinal riboflavin uptake: inhibition mediated via transcriptional mechanism(s). Am J Physiol Cell Physiol 2018;315:C653-63. [PMID: 30156861 DOI: 10.1152/ajpcell.00295.2018] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
54 Tolomeo M, Nisco A, Barile M. Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies. Methods Mol Biol 2021;2280:275-95. [PMID: 33751442 DOI: 10.1007/978-1-0716-1286-6_18] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
55 Said HM. Intestinal absorption of water-soluble vitamins in health and disease. Biochem J. 2011;437:357-372. [PMID: 21749321 DOI: 10.1042/bj20110326] [Cited by in Crossref: 211] [Cited by in F6Publishing: 89] [Article Influence: 19.2] [Reference Citation Analysis]
56 Teoh HL, Carey K, Sampaio H, Mowat D, Roscioli T, Farrar M. Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. Neural Plast 2017;2017:6509493. [PMID: 28634552 DOI: 10.1155/2017/6509493] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 1.4] [Reference Citation Analysis]
57 Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis 2012;35:943-8. [PMID: 22864630 DOI: 10.1007/s10545-012-9513-y] [Cited by in Crossref: 58] [Cited by in F6Publishing: 55] [Article Influence: 5.8] [Reference Citation Analysis]
58 Niceforo A, Marioli C, Colasuonno F, Petrini S, Massey K, Tartaglia M, Bertini E, Moreno S, Compagnucci C. Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency. Dis Model Mech 2021:dmm. [PMID: 33468503 DOI: 10.1242/dmm.046391] [Reference Citation Analysis]
59 van der Pol WL, Talim B, Pitt M, von Au K. 190th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1. Neuromuscular Disorders 2013;23:602-9. [DOI: 10.1016/j.nmd.2013.04.004] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
60 Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M. 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. J Inherit Metab Dis. 2011;34:159-164. [PMID: 21110228 DOI: 10.1007/s10545-010-9242-z] [Cited by in Crossref: 157] [Cited by in F6Publishing: 131] [Article Influence: 13.1] [Reference Citation Analysis]
61 Bashford JA, Chowdhury FA, Shaw CE. Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. Pract Neurol 2017;17:53-6. [PMID: 27777325 DOI: 10.1136/practneurol-2016-001488] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
62 Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012;135:2875-82. [PMID: 22740598 DOI: 10.1093/brain/aws161] [Cited by in Crossref: 88] [Cited by in F6Publishing: 81] [Article Influence: 8.8] [Reference Citation Analysis]
63 Toopchizadeh V, Akbari MG, Habibzadeh A. Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. J Pediatr Neurosci 2013;8:257-9. [PMID: 24470831 DOI: 10.4103/1817-1745.123709] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
64 Timmerman V, De Jonghe P. Promising riboflavin treatment for motor neuron disorder. Brain 2014;137:2-3. [PMID: 24424912 DOI: 10.1093/brain/awt342] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
65 Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, Tartaglia M, Bertini E, Compagnucci C, Moreno S. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxid Med Cell Longev 2020;2020:6821247. [PMID: 32855765 DOI: 10.1155/2020/6821247] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
66 Set KK, Weber AR, Serajee FJ, Huq AM. Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. Neurology 2018;90:e625-31. [DOI: 10.1212/wnl.0000000000004973] [Cited by in Crossref: 2] [Article Influence: 0.5] [Reference Citation Analysis]
67 Fogh S, Dipace G, Bie A, Veiga-da-Cunha M, Hansen J, Kjeldsen M, Mosegaard S, Ribes A, Gregersen N, Aagaard L, Van Schaftingen E, Olsen RKJ. Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? J Inherit Metab Dis 2021. [PMID: 33973257 DOI: 10.1002/jimd.12394] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
68 Khani M, Alavi A, Shamshiri H, Zamani B, Hassanpour H, Kazemi MH, Nafissi S, Elahi E. Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. Neurobiology of Aging 2019;75:225.e9-225.e14. [DOI: 10.1016/j.neurobiolaging.2018.11.003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
69 Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet 2010;87:567-9; author reply 569-70. [PMID: 20920669 DOI: 10.1016/j.ajhg.2010.05.021] [Cited by in Crossref: 43] [Cited by in F6Publishing: 36] [Article Influence: 3.6] [Reference Citation Analysis]
70 Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 2017;140:2820-37. [PMID: 29053833 DOI: 10.1093/brain/awx231] [Cited by in Crossref: 37] [Cited by in F6Publishing: 30] [Article Influence: 7.4] [Reference Citation Analysis]
71 Wilmshurst JM, Ouvrier RA, Ryan MM. Peripheral nerve disease secondary to systemic conditions in children. Ther Adv Neurol Disord 2019;12:1756286419866367. [PMID: 31447934 DOI: 10.1177/1756286419866367] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
72 Said HM, Nexo E. Intestinal Absorption of Water-Soluble Vitamins: Cellular and Molecular Mechanisms. Physiology of the Gastrointestinal Tract. Elsevier; 2018. pp. 1201-48. [DOI: 10.1016/b978-0-12-809954-4.00054-2] [Cited by in Crossref: 3] [Article Influence: 0.8] [Reference Citation Analysis]
73 Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain 2017;140:e11-e11. [DOI: 10.1093/brain/aww303] [Cited by in Crossref: 34] [Cited by in F6Publishing: 28] [Article Influence: 5.7] [Reference Citation Analysis]
74 Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. JIMD Rep 2016;27:39-45. [PMID: 26409463 DOI: 10.1007/8904_2015_481] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 0.9] [Reference Citation Analysis]
75 Amir F, Atzinger C, Massey K, Greinwald J, Hunter LL, Ulm E, Kettler M. The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. J Child Neurol 2020;35:283-90. [PMID: 31868069 DOI: 10.1177/0883073819893159] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
76 Wanders RJA, Visser G, Ferdinandusse S, Vaz FM, Houtkooper RH. Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment. J Lipid Atheroscler 2020;9:313-33. [PMID: 33024728 DOI: 10.12997/jla.2020.9.3.313] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
77 Koy A, Pillekamp F, Hoehn T, Waterham H, Klee D, Mayatepek E, Assmann B. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. Pediatr Neurol 2012;46:407-9. [PMID: 22633641 DOI: 10.1016/j.pediatrneurol.2012.03.008] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
78 Spagnoli C, De Sousa C. Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. Developmental Medicine & Child Neurology 2012;54:292-3. [DOI: 10.1111/j.1469-8749.2011.04179.x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.1] [Reference Citation Analysis]
79 Manole A, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Current Opinion in Neurology 2014;27:506-14. [DOI: 10.1097/wco.0000000000000133] [Cited by in Crossref: 12] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
80 Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet. 2013;14:681-691. [PMID: 23999272 DOI: 10.1038/nrg3555] [Cited by in Crossref: 461] [Cited by in F6Publishing: 410] [Article Influence: 51.2] [Reference Citation Analysis]
81 Yedavalli VS, Patil A, Shah P. Amyotrophic Lateral Sclerosis and its Mimics/Variants: A Comprehensive Review. J Clin Imaging Sci 2018;8:53. [PMID: 30652056 DOI: 10.4103/jcis.JCIS_40_18] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
82 Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. Int J Biochem Cell Biol 2021;132:105899. [PMID: 33279678 DOI: 10.1016/j.biocel.2020.105899] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
83 Subramanian VS, Rapp L, Marchant JS, Said HM. Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells. Am J Physiol Gastrointest Liver Physiol. 2011;301:G100-G109. [PMID: 21512156 DOI: 10.1152/ajpgi.00120.2011] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 2.3] [Reference Citation Analysis]
84 Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Am J Med Genet A 2018;176:399-403. [PMID: 29193829 DOI: 10.1002/ajmg.a.38530] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 2.2] [Reference Citation Analysis]
85 Anand G, Hasan N, Jayapal S, Huma Z, Ali T, Hull J, Blair E, McShane T, Jayawant S. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol 2012;54:187-9. [PMID: 22098162 DOI: 10.1111/j.1469-8749.2011.04142.x] [Cited by in Crossref: 41] [Cited by in F6Publishing: 39] [Article Influence: 3.7] [Reference Citation Analysis]
86 Li J, Wang S, Li M, Xu H, Li D, Yin C, Zhao J, Li F. Decreased risk of developing cancer in subjects carrying SLC52A3 rs13042395 polymorphism: proof from a meta-analysis. Biomark Med 2016;10:1105-18. [PMID: 27600099 DOI: 10.2217/bmm-2016-0158] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
87 Sabui S, Ghosal A, Said HM. Identification and characterization of 5'-flanking region of the human riboflavin transporter 1 gene (SLC52A1). Gene 2014;553:49-56. [PMID: 25284511 DOI: 10.1016/j.gene.2014.10.001] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
88 Houlden H. A Commentary on ‘Four novel C20ORF54 mutations identified in Brown–Vialetto–Van Laere syndrome patients.’. J Hum Genet 2012;57:555-555. [DOI: 10.1038/jhg.2012.88] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
89 Lienhart WD, Gudipati V, Macheroux P. The human flavoproteome. Arch Biochem Biophys 2013;535:150-62. [PMID: 23500531 DOI: 10.1016/j.abb.2013.02.015] [Cited by in Crossref: 110] [Cited by in F6Publishing: 101] [Article Influence: 12.2] [Reference Citation Analysis]
90 Abbas Q, Jafri SK, Ishaque S, Rahman AJ. Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. BMJ Case Rep 2018;2018:bcr-2018-224958. [PMID: 29950502 DOI: 10.1136/bcr-2018-224958] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
91 Wu AM, Dedina L, Dalvi P, Yang M, Leon-Cheon J, Earl B, Harper PA, Ito S. Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation. Am J Physiol Regul Integr Comp Physiol 2016;310:R578-85. [PMID: 26791833 DOI: 10.1152/ajpregu.00507.2015] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
92 Said HM, Nexo E. Gastrointestinal Handling of Water-Soluble Vitamins. Compr Physiol 2018;8:1291-311. [PMID: 30215865 DOI: 10.1002/cphy.c170054] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
93 Omar R, Rajput K, Sirimanna T, Rajput S, Pagarkar W. The audiovestibular profile of Brown-Vialetto-Van Laere syndrome. J Laryngol Otol 2021;135:1000-9. [PMID: 34496984 DOI: 10.1017/S0022215121002395] [Reference Citation Analysis]
94 O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis 2019;42:598-607. [PMID: 30793323 DOI: 10.1002/jimd.12053] [Cited by in Crossref: 29] [Cited by in F6Publishing: 23] [Article Influence: 9.7] [Reference Citation Analysis]
95 Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nat Rev Neurol 2014;10:661-70. [PMID: 25311585 DOI: 10.1038/nrneurol.2014.184] [Cited by in Crossref: 280] [Cited by in F6Publishing: 264] [Article Influence: 35.0] [Reference Citation Analysis]
96 Rabbani B, Bakhshandeh MK, Navaeifar MR, Abbaskhanian A, Soveizi M, Geravandpoor S, Mahdieh N. Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses. J Clin Neurosci 2020;72:342-9. [PMID: 31959559 DOI: 10.1016/j.jocn.2020.01.040] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
97 Nabokina SM, Subramanian VS, Said HM. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). Mol Genet Metab 2012;105:652-7. [PMID: 22273710 DOI: 10.1016/j.ymgme.2011.12.021] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.4] [Reference Citation Analysis]
98 Chaya S, Zampoli M, Gray D, Booth J, Riordan G, Ndondo A, Fieggen K, Rusch J, van der Watt G, Pillay K, van der Westhuizen F, Menezes M, Wilmshurst J. The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. Semin Pediatr Neurol 2018;26:10-4. [PMID: 29961494 DOI: 10.1016/j.spen.2017.03.002] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
99 Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Cold Spring Harb Mol Case Stud 2015;1:a000265. [PMID: 27148562 DOI: 10.1101/mcs.a000265] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
100 Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. Dev Med Child Neurol 2016;58:848-54. [PMID: 26918385 DOI: 10.1111/dmcn.13084] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.7] [Reference Citation Analysis]
101 Camargos S, Guerreiro R, Bras J, Mageste LS. Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. Neurol Genet 2018;4:e215. [PMID: 29473049 DOI: 10.1212/NXG.0000000000000215] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
102 Dezfouli MA, Yadegari S, Nafissi S, Elahi E. Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients. J Hum Genet 2012;57:613-7. [DOI: 10.1038/jhg.2012.70] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 2.3] [Reference Citation Analysis]
103 Console L, Tolomeo M, Cosco J, Massey K, Barile M, Indiveri C. Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2. IUBMB Life 2021. [PMID: 34428344 DOI: 10.1002/iub.2541] [Reference Citation Analysis]
104 Nalini A, Pandraud A, Mok K, Houlden H. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. J Neurol Sci 2013;334:119-22. [PMID: 24139842 DOI: 10.1016/j.jns.2013.08.003] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 1.1] [Reference Citation Analysis]
105 Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B. Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. Eur J Neurol 2021;28:945-54. [PMID: 33325104 DOI: 10.1111/ene.14682] [Reference Citation Analysis]
106 Bandettini di Poggio M, Gagliardi S, Pardini M, Marchioni E, Monti Bragadin M, Reni L, Doria-lamba L, Roccatagliata L, Ceroni M, Schenone A, Cereda C. A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. Eur J Neurol 2013;20:e94-5. [DOI: 10.1111/ene.12163] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
107 Yıldız Y, Olsen RKJ, Sivri HS, Akçören Z, Nygaard HH, Tokatlı A. Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. Neuromuscul Disord 2018;28:787-90. [PMID: 30061063 DOI: 10.1016/j.nmd.2018.05.009] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
108 Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta 2016;462:210-4. [PMID: 27702554 DOI: 10.1016/j.cca.2016.09.022] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
109 Subramanian VS, Sabui S, Teafatiller T, Bohl JA, Said HM. Structure/functional aspects of the human riboflavin transporter-3 (SLC52A3): role of the predicted glycosylation and substrate-interacting sites. Am J Physiol Cell Physiol 2017;313:C228-38. [PMID: 28637675 DOI: 10.1152/ajpcell.00101.2017] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
110 Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. Neurology 2018;91:938-41. [PMID: 30420458 DOI: 10.1212/WNL.0000000000006498] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
111 Fecto F, Siddique T. SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis. Ann Neurol 2011;70:867-70. [DOI: 10.1002/ana.22648] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
112 Plantone D, Pardini M, Rinaldi G. Riboflavin in Neurological Diseases: A Narrative Review. Clin Drug Investig 2021;41:513-27. [PMID: 33886098 DOI: 10.1007/s40261-021-01038-1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
113 Huang K. Exome sequencing expedites disease gene discovery. Clinical Genetics 2011;80:133-4. [DOI: 10.1111/j.1399-0004.2011.01645.x] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
114 Dilly S, Garnier M, Solé M, Bailly R, Taib N, Bestel I. In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3. J Chem Inf Model 2020;60:1368-75. [DOI: 10.1021/acs.jcim.9b01020] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
115 Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. Journal of the Peripheral Nervous System 2012;17:285-300. [DOI: 10.1111/j.1529-8027.2012.00412.x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 10] [Article Influence: 2.1] [Reference Citation Analysis]
116 Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K. Functional involvement of RFVT3/ SLC52A3 in intestinal riboflavin absorption. American Journal of Physiology-Gastrointestinal and Liver Physiology 2014;306:G102-10. [DOI: 10.1152/ajpgi.00349.2013] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.5] [Reference Citation Analysis]
117 Chandran R, Alexander M, Naina P, Balraj A. Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation. J Laryngol Otol 2015;129:504-8. [DOI: 10.1017/s0022215114003375] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
118 Subramanian VS, Ghosal A, Kapadia R, Nabokina SM, Said HM. Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process. PLoS One 2015;10:e0131698. [PMID: 26121134 DOI: 10.1371/journal.pone.0131698] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 3.0] [Reference Citation Analysis]
119 Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol 2018;26:2-9. [PMID: 29961509 DOI: 10.1016/j.spen.2017.03.001] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 2.8] [Reference Citation Analysis]