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Items: 1 to 20 of 106

1.

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.

2.

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.

3.

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
4.

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.

5.

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
6.

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 1;462:210-214. doi: 10.1016/j.cca.2016.09.022. Epub 2016 Oct 1.

7.

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.

8.

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.

9.

Familial Madras motor neuron disease (FMMND): study of 15 families from southern India.

Nalini A, Yamini BK, Gayatri N, Thennarasu K, Gope R.

J Neurol Sci. 2006 Dec 1;250(1-2):140-6. Epub 2006 Sep 28.

PMID:
17010382
10.

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.

Allison T, Roncero I, Forsyth R, Coffman K, Pichon JL.

J Child Neurol. 2017 May;32(6):528-532. doi: 10.1177/0883073816689517. Epub 2017 Jan 24. Review.

PMID:
28116953
11.

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
12.

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
13.

Madras motor neuron disease (MMND): clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007).

Nalini A, Thennarasu K, Yamini BK, Shivashankar D, Krishna N.

J Neurol Sci. 2008 Jun 15;269(1-2):65-73. doi: 10.1016/j.jns.2007.12.026. Epub 2008 Feb 7.

PMID:
18261745
14.

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
15.

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
16.

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
17.

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.

Spagnoli C, De Sousa C.

Dev Med Child Neurol. 2012 Apr;54(4):292-3. doi: 10.1111/j.1469-8749.2011.04179.x. Epub 2011 Dec 29. Review. No abstract available.

18.

Madras motor neuron disease variant, clinical features of seven patients.

Gourie-Devi M, Nalini A.

J Neurol Sci. 2003 May 15;209(1-2):13-7.

PMID:
12686396
19.

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.

20.

Brown-Vialetto-Van Laere syndrome.

Sathasivam S.

Orphanet J Rare Dis. 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. Review.

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