Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy (Q42626335)

4 November 2017

title

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy (English)

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4 November 2017

Gittan Kollberg

1

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4 November 2017

Már Tulinius

2

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4 November 2017

Atle Melberg

3

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4 November 2017

Niklas Darin

4

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4 November 2017

Oluf Andersen

5

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4 November 2017

Daniel Holmgren

6

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4 November 2017

Anders Oldfors

7

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4 November 2017

Elisabeth Holme

8

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4 November 2017

language of work or name

English

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publication date

30 June 2009

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4 November 2017

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4 November 2017

volume

132

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4 November 2017

issue

Pt 8

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4 November 2017

page(s)

2170-2179

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Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

4 November 2017

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HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

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Genomic variants in exons and introns: identifying the splicing spoilers

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Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

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Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones

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Multiple splicing defects in an intronic false exon

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Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells

21 January 2018

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Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis

21 January 2018

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Interplay of IscA and IscU in biogenesis of iron-sulfur clusters.

21 January 2018

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Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP152

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4 November 2017

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