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Items: 1 to 20 of 32

1.

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.

Udhayabanu T, Manole A, Rajeshwari M, Varalakshmi P, Houlden H, Ashokkumar B.

J Clin Med. 2017 May 5;6(5). pii: E52. doi: 10.3390/jcm6050052. Review.

2.

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.

PMID:
28116953
3.

Middle Cerebellar Peduncles T2-Hyperintense Signal in Fazio-Londe Syndrome.

Franco IA, Arag√£o MM, Poretti A, Silva MC, Diogo WJ, Masruha MR.

Neuropediatrics. 2016 Dec 26. doi: 10.1055/s-0036-1597674. [Epub ahead of print] No abstract available.

PMID:
28024308
4.

Fazio Londe syndrome: A treatable disorder.

Varadarajan P, Thayanathi V, Pauline LC.

Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):87-9. doi: 10.4103/0972-2327.144283.

5.

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Manole A, Fratta P, Houlden H.

Curr Opin Neurol. 2014 Oct;27(5):506-14. doi: 10.1097/WCO.0000000000000133. Review.

PMID:
25159929
6.

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.

7.

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.

8.

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
9.

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
10.

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
11.

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
12.

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

Horvath R.

J Inherit Metab Dis. 2012 Jul;35(4):679-87. doi: 10.1007/s10545-011-9434-1. Epub 2012 Jan 10. Review.

PMID:
22231380
13.

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.

14.

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Anand G, Hasan N, Jayapal S, Huma Z, Ali T, Hull J, Blair E, McShane T, Jayawant S.

Dev Med Child Neurol. 2012 Feb;54(2):187-9. doi: 10.1111/j.1469-8749.2011.04142.x. Epub 2011 Nov 18.

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.

Brown-Vialetto-Van Laere syndrome.

Sathasivam S.

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

17.

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.

Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ.

Brain Dev. 2005 Sep;27(6):443-6. Epub 2004 Dec 15.

PMID:
16122634
18.

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.

Roeleveld-Versteegh AB, Braun KP, Smeitink JA, Dorland L, de Koning TJ.

J Inherit Metab Dis. 2004;27(2):281-3.

PMID:
15243985
19.

Progressive bulbur paralysis (Fazio-Londe disease).

Gulati T, Dewan V, Kumar P, Ahuja B, Anand VK.

Indian J Pediatr. 2004 Jan;71(1):101-2.

PMID:
14979395
20.

Infantile progressive bulbar palsy with deafness.

Voudris KA, Skardoutsou A, Vagiakou EA.

Brain Dev. 2002 Oct;24(7):732-5.

PMID:
12427524

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