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Items: 15

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

2.

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.

3.

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.

Yonezawa A, Inui K.

Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Review.

PMID:
23506902
4.

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
5.

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.

6.

Brown-Vialetto-Van Laere syndrome: case report and literature review.

Sathasivam S, O'Sullivan S, Nicolson A, Tilley PJ, Shaw PJ.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Sep;1(4):277-81. Review.

PMID:
11465021
7.

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.

8.

Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology.

Prabhu HV, Brown MJ.

J Laryngol Otol. 2005 Jun;119(6):470-2. Review.

PMID:
15992475
9.

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
10.

Ponto-bulbar palsy with deafness (Vialetto-Van Laere syndrome).

Puri V, Rohtagi A, Parihar PS.

Indian Pediatr. 1996 Feb;33(2):140-2. Review. No abstract available.

PMID:
8772937
11.

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A.

Am J Med Genet. 2000 May 15;92(2):117-21. Review.

PMID:
10797435
12.

Brown-Vialetto-Van Laere syndrome.

Sathasivam S.

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

13.

[Brown-Vialetto-Van Laere syndrome: a case with anti-ganglioside GM1 antibodies and literature review].

Sztajzel R, Kohler A, Reichart M, Djientcheu VP, Chofflon M, Magistris MR.

Rev Neurol (Paris). 1998 Jan;154(1):51-4. Review. French.

PMID:
9773026
14.

Pendred syndrome.

Glaser B.

Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Review.

PMID:
16444159
15.

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.

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