(Q30444380)

20 August 2017

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (English)

1 reference

20 August 2017

1 reference

52

0 references

Alexander Broomfield

Alexander Broomfield

21

0 references

Joanne Ng

Joanne Ng

22

0 references

Atsushi Yonezawa

Atsushi Yonezawa

8

0 references

Jean-Pierre Lin

Jean-Pierre Lin

15

0 references

John Christodoulou

John Christodoulou

51

0 references

Heinz Jungbluth

Heinz Jungbluth

13

0 references

Rita Horvath

Rita Horvath

35

0 references

Volker Straub

36

Volker Straub

1 reference

20 August 2017

49

Mary M Reilly

1 reference

20 August 2017

44

Steven S Scherer

1 reference

20 August 2017

48

Shamima Rahman

1 reference

20 August 2017

A Reghan Foley

1

1 reference

20 August 2017

Manoj P Menezes

2

1 reference

20 August 2017

Amelie Pandraud

3

1 reference

20 August 2017

Michael A Gonzalez

4

1 reference

20 August 2017

Ahmad Al-Odaib

5

1 reference

20 August 2017

Alexander J Abrams

6

1 reference

20 August 2017

Kumiko Sugano

7

1 reference

20 August 2017

Adnan Y Manzur

9

1 reference

20 August 2017

Joshua Burns

10

1 reference

20 August 2017

Imelda Hughes

11

1 reference

20 August 2017

B Gary McCullagh

12

1 reference

20 August 2017

Ming J Lim

14

1 reference

20 August 2017

Andre Megarbane

16

1 reference

20 August 2017

J Andoni Urtizberea

17

1 reference

20 August 2017

Ayaz H Shah

18

1 reference

20 August 2017

Jayne Antony

19

1 reference

20 August 2017

Richard Webster

20

1 reference

20 August 2017

Ann A Mathew

23

1 reference

20 August 2017

James J O'Byrne

24

1 reference

20 August 2017

Eva Forman

25

1 reference

20 August 2017

Mariacristina Scoto

26

1 reference

20 August 2017

Manish Prasad

27

1 reference

20 August 2017

Katherine O'Brien

28

1 reference

20 August 2017

Simon Olpin

29

1 reference

20 August 2017

Marcus Oppenheim

30

1 reference

20 August 2017

Iain Hargreaves

31

1 reference

20 August 2017

John M Land

32

1 reference

20 August 2017

Min X Wang

33

1 reference

20 August 2017

Kevin Carpenter

34

1 reference

20 August 2017

Monkol Lek

37

1 reference

20 August 2017

Wendy Gold

38

1 reference

20 August 2017

Michael O Farrell

39

1 reference

20 August 2017

Sebastian Brandner

40

1 reference

20 August 2017

Rahul Phadke

41

1 reference

20 August 2017

Kazuo Matsubara

42

1 reference

20 August 2017

Michael L McGarvey

43

1 reference

20 August 2017

Peter S Baxter

45

1 reference

20 August 2017

Mary D King

46

1 reference

20 August 2017

Peter Clayton

47

1 reference

20 August 2017

Robert A Ouvrier

50

1 reference

20 August 2017

Francesco Muntoni

53

1 reference

20 August 2017

Henry Houlden

54

1 reference

20 August 2017

language of work or name

English

0 references

publication date

19 November 2013

1 reference

20 August 2017

1 reference

20 August 2017

137

1 reference

20 August 2017

Pt 1

1 reference

20 August 2017

44-56

1 reference

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

The distal hereditary motor neuropathies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Brown-Vialetto-Van Laere syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Infantile progressive bulbar palsy with deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Brown-Vialetto-Van Laere syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Progressive bulbar paralysis of childhood (Fazio-Londe disease) with deafness. Case report with clinicopathologic correlation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Toxic effects of water-soluble vitamins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

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

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Mitochondrial fatty acid oxidation defects--remaining challenges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Mental retardation associated with Brown‐Vialetto‐Van Laere syndromeSirs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT315

Mental retardation associated with Brown-Vialetto-Van Laere syndromeSirs

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891447

Riboflavin transporter is finally identified

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24253200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24253200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cryptogenic polyneuropathy: clinical and neurophysiological findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24253200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWT315

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24253200

1 reference