(Q46268668)

20 December 2017

title

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome (English)

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20 December 2017

12

Wouter Coppieters

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20 December 2017

author name string

Mike Gerards

1

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20 December 2017

Rick Kamps

2

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20 December 2017

Jo van Oevelen

3

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20 December 2017

Iris Boesten

4

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20 December 2017

Eveline Jongen

5

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20 December 2017

Bart de Koning

6

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20 December 2017

Hans R Scholte

7

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20 December 2017

Isabel de Angst

8

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20 December 2017

Kees Schoonderwoerd

9

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20 December 2017

Abdelaziz Sefiani

10

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20 December 2017

Ilham Ratbi

11

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20 December 2017

Latifa Karim

13

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20 December 2017

René de Coo

14

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20 December 2017

Bianca van den Bosch

15

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20 December 2017

Hubert Smeets

16

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20 December 2017

language of work or name

English

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publication date

18 February 2013

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20 December 2017

published in

Brain

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20 December 2017

volume

136

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20 December 2017

issue

Pt 3

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20 December 2017

page(s)

882-890

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20 December 2017

A map of human genome variation from population-scale sequencing

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Revisiting Mendelian disorders through exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Leigh's disease due to a new mutation in the PDHX gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

HomozygosityMapper--an interactive approach to homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

Recent advances in the genetics of mitochondrial encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT013

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%2FAWT013

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%2FAWT013

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT013

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20 December 2017

PubMed ID

23423671

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20 December 2017