(Q28269924)

7

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Johannes N Spelbrink

object named as

Johannes N Spelbrink

5

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author name string

Kaisu Nikali

1

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Anu Suomalainen

2

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Juha Saharinen

3

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Mikko Kuokkanen

4

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Tuula Lönnqvist

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

6

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language of work or name

English

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publication date

15 October 2005

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published in

Human Molecular Genetics

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volume

14

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issue

20

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page(s)

2981-90

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Molecular genetics of the Finnish disease heritage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Friedreich ataxia: a paradigm for mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Characterization and expression of sema4g, a novel member of the semaphorin gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

A survey of genetic and epigenetic variation affecting human gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Reconstitution of a minimal mtDNA replisome in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328

Allelic Variation in Human Gene Expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI328