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Items: 1 to 20 of 111

1.

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. doi: 10.1093/brain/aws161. Epub 2012 Jun 26.

2.

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. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

3.

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 15;334(1-2):119-22. doi: 10.1016/j.jns.2013.08.003. Epub 2013 Aug 13.

4.

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. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.

5.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE Canada Consortium, Poulin C, O'ferrall E, Buhas D, Majewski J, Brais B.

Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16.

PMID:
24616084
6.

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. doi: 10.1016/j.pediatrneurol.2012.03.008.

PMID:
22633641
7.

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. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14.

PMID:
23243084
8.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Menezes MP, Farrar MA, Webster R, Antony J, O'Brien K, Ouvrier R, Kiernan MC, Burns J, Vucic S.

Clin Neurophysiol. 2016 Jan;127(1):911-8. doi: 10.1016/j.clinph.2015.05.012. Epub 2015 Jun 3.

PMID:
26092362
9.

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ.

Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4.

10.

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 29;7:83. doi: 10.1186/1750-1172-7-83. Review.

11.

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.

Spagnoli C, Pitt MC, Rahman S, de Sousa C.

Eur J Paediatr Neurol. 2014 Mar;18(2):231-4. doi: 10.1016/j.ejpn.2013.09.006. Epub 2013 Oct 16.

PMID:
24206674
12.

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

Dezfouli MA, Yadegari S, Nafissi S, Elahi E.

J Hum Genet. 2012 Sep;57(9):613-7. doi: 10.1038/jhg.2012.70. Epub 2012 Jun 21.

PMID:
22718020
13.

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

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.

Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21.

PMID:
22824638
14.

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. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26.

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. doi: 10.1007/s10545-012-9519-5. Epub 2012 Sep 14. No abstract available.

PMID:
22976761
16.

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 Sep-Oct;16(5):364-71. doi: 10.2350/13-02-1299-CR.1. Epub 2013 May 20.

PMID:
23688382
17.

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. doi: 10.3109/21678421.2013.837931. Epub 2013 Oct 1.

PMID:
24079556
18.

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

González-Pérez P, Lu Y, Chian RJ, Sapp PC, Tanzi RE, Bertram L, McKenna-Yasek D, Gao FB, Brown RH Jr.

Neurobiol Dis. 2012 Dec;48(3):391-8. doi: 10.1016/j.nbd.2012.06.018. Epub 2012 Jul 3.

19.

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.

Houlden H.

J Hum Genet. 2012 Sep;57(9):555. doi: 10.1038/jhg.2012.88. Epub 2012 Jul 12. No abstract available.

PMID:
22786578
20.

A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.

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.

Eur J Neurol. 2013 Jul;20(7):e94-5. doi: 10.1111/ene.12163. No abstract available.

PMID:
23750839
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