(Q48129877)

8 February 2018

title

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy (English)

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8 February 2018

author

Nicole I Wolf

12

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8 February 2018

Peter Heutink

15

object named as

Peter Heutink

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8 February 2018

14

Quinten Waisfisz

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8 February 2018

Truus E M Abbink

13

object named as

Truus E M Abbink

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8 February 2018

Nienke L Postma

10

object named as

Nienke L Postma

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8 February 2018

author name string

Sietske H Kevelam

1

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8 February 2018

Marianna Bugiani

2

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8 February 2018

Gajja S Salomons

3

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8 February 2018

Annette Feigenbaum

4

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8 February 2018

Susan Blaser

5

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8 February 2018

Chitra Prasad

6

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8 February 2018

Johannes Häberle

7

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8 February 2018

Ivo Baric

8

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8 February 2018

Ingrid M C Bakker

9

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8 February 2018

Warsha A Kanhai

11

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8 February 2018

Marjo S van der Knaap

16

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8 February 2018

language of work or name

English

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publication date

12 March 2013

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8 February 2018

published in

Brain

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8 February 2018

volume

136

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8 February 2018

issue

Pt 5

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8 February 2018

page(s)

1534-1543

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8 February 2018

A method and server for predicting damaging missense mutations

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

21 January 2018

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Nomenclature for the description of human sequence variations.

21 January 2018

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Modeling neurodegenerative disease pathophysiology in thiamine deficiency: consequences of impaired oxidative metabolism

21 January 2018

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VarScan: variant detection in massively parallel sequencing of individual and pooled samples

21 January 2018

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Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Revisiting Mendelian disorders through exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

SLC19A3 encodes a second thiamine transporter ThTr2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Expression and functional contribution of hTHTR-2 in thiamin absorption in human intestine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Invited article: an MRI-based approach to the diagnosis of white matter disorders

21 January 2018

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Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT054

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT054

1 reference

8 February 2018

1 reference

8 February 2018