244 related articles for article (PubMed ID: 22864630)
1. 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]
2. 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.
Udhayabanu T; Subramanian VS; Teafatiller T; Gowda VK; Raghavan VS; Varalakshmi P; Said HM; Ashokkumar B
Clin Chim Acta; 2016 Nov; 462():210-214. PubMed ID: 27702554
[TBL] [Abstract][Full Text] [Related]
3. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
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
Brain; 2017 Nov; 140(11):2820-2837. PubMed ID: 29053833
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
Gayathri S; Gowda VK; Udhayabanu T; O'Callaghan B; Efthymiou S; Varalakshmi P; Benakappa N; Houlden H; Ashokkumar B
Eur J Neurol; 2021 Mar; 28(3):945-954. PubMed ID: 33325104
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic.
Kranthi P; Garuda BR; Gopi S; Kumar TS
Neurol India; 2020; 68(5):1217-1219. PubMed ID: 33109881
[TBL] [Abstract][Full Text] [Related]
9. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
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
Brain; 2014 Jan; 137(Pt 1):44-56. PubMed ID: 24253200
[TBL] [Abstract][Full Text] [Related]
10. The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
Omar R; Rajput K; Sirimanna T; Rajput S; Pagarkar W
J Laryngol Otol; 2021 Nov; 135(11):1000-1009. PubMed ID: 34496984
[TBL] [Abstract][Full Text] [Related]
11. Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients.
Malafronte P; Clark HB; Castaneda-Sanchez I; Raisanen J; Hatanpaa KJ
Pediatr Dev Pathol; 2013; 16(5):364-71. PubMed ID: 23688382
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
Nabokina SM; Subramanian VS; Said HM
Mol Genet Metab; 2012 Apr; 105(4):652-7. PubMed ID: 22273710
[TBL] [Abstract][Full Text] [Related]
15. Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).
Bennett MJ
J Inherit Metab Dis; 2012 Nov; 35(6):941-2. PubMed ID: 22976761
[No Abstract] [Full Text] [Related]
16. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.
Koy A; Pillekamp F; Hoehn T; Waterham H; Klee D; Mayatepek E; Assmann B
Pediatr Neurol; 2012 Jun; 46(6):407-9. PubMed ID: 22633641
[TBL] [Abstract][Full Text] [Related]
17. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.
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
Semin Pediatr Neurol; 2018 Jul; 26():2-9. PubMed ID: 29961509
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.
Liu Z; Peng Q; Li J; Rao C; Lu X
Clin Chim Acta; 2021 Dec; 523():402-406. PubMed ID: 34737166
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]