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Items: 1 to 20 of 97

1.

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
2.

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
3.

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
4.

Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.

Cosgrove J, Datta S, Busby M.

Clin Neurol Neurosurg. 2015 Jan;128:1-3. doi: 10.1016/j.clineuro.2014.10.016. Epub 2014 Nov 4. No abstract available.

PMID:
25462087
5.

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
6.

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
7.

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.

8.

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
9.

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.

10.

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
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.

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.

13.

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB.

Am J Hum Genet. 2010 Oct 8;87(4):567-9; author reply 569-70. doi: 10.1016/j.ajhg.2010.05.021. No abstract available.

14.

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
15.

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.

16.

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.

17.

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.

18.

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.

Malheiros JA, Camargos ST, Oliveira JT, Cardoso FE.

Arq Neuropsiquiatr. 2007 Mar;65(1):32-5. Review.

19.

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
20.

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 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

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