325 related articles for article (PubMed ID: 26918385)
21. 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; Abeling NG; Ijlst L; Knoester H; van der Pol WL; Stroomer AE; Wanders RJ; Visser G; Wijburg FA; Duran M; Waterham HR
J Inherit Metab Dis; 2011 Feb; 34(1):159-64. PubMed ID: 21110228
[TBL] [Abstract][Full Text] [Related]
22. A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in
Thulasi V; Veerapandiyan A; Pletcher BA; Tong CM; Ming X
Child Neurol Open; 2017; 4():2329048X17725610. PubMed ID: 28856173
[TBL] [Abstract][Full Text] [Related]
23. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
O'Callaghan B; Bosch AM; Houlden H
J Inherit Metab Dis; 2019 Jul; 42(4):598-607. PubMed ID: 30793323
[TBL] [Abstract][Full Text] [Related]
24. [Auditory evoked potentials in children with auditory neuropathy spectrum disorder].
Lalayants MR; Brazhkina NB; Geptner EN; Kruglov AV; Barrlyak VV; Tavartkiladze GA
Vestn Otorinolaringol; 2018; 83(4):15-20. PubMed ID: 30113574
[TBL] [Abstract][Full Text] [Related]
25. Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice.
Jin C; Matsui Y; Yonezawa A; Imai S; Ogihara T; Itohara K; Nakagawa S; Nakagawa T; Matsubara K
Biol Pharm Bull; 2021; 44(2):283-286. PubMed ID: 33518683
[TBL] [Abstract][Full Text] [Related]
26. Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.
Bandettini Di Poggio M; Monti Bragadin M; Reni L; Doria-Lamba L; Cereda C; Pardini M; Roccatagliata L; Rossi A; Schenone A
Amyotroph Lateral Scler Frontotemporal Degener; 2014 Mar; 15(1-2):141-4. PubMed ID: 24079556
[TBL] [Abstract][Full Text] [Related]
27. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
Ciccolella M; Corti S; Catteruccia M; Petrini S; Tozzi G; Rizza T; Carrozzo R; Nizzardo M; Bordoni A; Ronchi D; D'Amico A; Rizzo C; Comi GP; Bertini E
J Med Genet; 2013 Feb; 50(2):104-7. PubMed ID: 23243084
[TBL] [Abstract][Full Text] [Related]
28. The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
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
Semin Pediatr Neurol; 2018 Jul; 26():10-14. PubMed ID: 29961494
[TBL] [Abstract][Full Text] [Related]
29. Effect of age at cochlear implantation on auditory and speech development of children with auditory neuropathy spectrum disorder.
Liu Y; Dong R; Li Y; Xu T; Li Y; Chen X; Gong S
Auris Nasus Larynx; 2014 Dec; 41(6):502-6. PubMed ID: 25194855
[TBL] [Abstract][Full Text] [Related]
30. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
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
J Inherit Metab Dis; 2012 Nov; 35(6):943-8. PubMed ID: 22864630
[TBL] [Abstract][Full Text] [Related]
31. Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome.
Sinnathuray AR; Watson DR; Fruhstorfer B; Olarte JR; Toner JG
J Laryngol Otol; 2011 Mar; 125(3):314-7. PubMed ID: 20955635
[TBL] [Abstract][Full Text] [Related]
32. Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect.
Elks N; Wilmshurst JM; Raga SV
Pediatr Neurol; 2023 Jul; 144():16-18. PubMed ID: 37116404
[TBL] [Abstract][Full Text] [Related]
33. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Nalini A; Pandraud A; Mok K; Houlden H
J Neurol Sci; 2013 Nov; 334(1-2):119-22. PubMed ID: 24139842
[TBL] [Abstract][Full Text] [Related]
34. Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
Srour M; Putorti ML; Schwartzentruber J; Bolduc V; Shevell MI; ; Poulin C; O'ferrall E; Buhas D; Majewski J; Brais B
Muscle Nerve; 2014 Nov; 50(5):775-9. PubMed ID: 24616084
[TBL] [Abstract][Full Text] [Related]
35. SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
Intoh A; Suzuki N; Koszka K; Eggan K
Hum Mol Genet; 2016 May; 25(9):1814-23. PubMed ID: 26976849
[TBL] [Abstract][Full Text] [Related]
36. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM; Stroek K; Abeling NG; Waterham HR; Ijlst L; Wanders RJ
Orphanet J Rare Dis; 2012 Oct; 7():83. PubMed ID: 23107375
[TBL] [Abstract][Full Text] [Related]
37. A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
Shi K; Shi Z; Yan H; Wang X; Yang Y; Xiong H; Gu Q; Wu Y; Jiang Y; Wang J
BMC Med Genet; 2019 May; 20(1):76. PubMed ID: 31064337
[TBL] [Abstract][Full Text] [Related]
38. Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.
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
Sci Rep; 2017 Apr; 7():46271. PubMed ID: 28382968
[TBL] [Abstract][Full Text] [Related]
39. Cochlear implantation in children with auditory neuropathy spectrum disorder: A multicenter study on auditory performance and speech production outcomes.
Daneshi A; Mirsalehi M; Hashemi SB; Ajalloueyan M; Rajati M; Ghasemi MM; Emamdjomeh H; Asghari A; Mohammadi S; Mohseni M; Mohebbi S; Farhadi M
Int J Pediatr Otorhinolaryngol; 2018 May; 108():12-16. PubMed ID: 29605339
[TBL] [Abstract][Full Text] [Related]
40. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
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
Brain; 2012 Sep; 135(Pt 9):2875-82. PubMed ID: 22740598
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
