(Q34300940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Defective mitochondrial mRNA maturation is associated with spastic ataxia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

3

1 reference

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16 February 2020

Christos Proukakis

4

1 reference

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16 February 2020

Michael Simpson

9

1 reference

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Zofia M Chrzanowska-Lightowlers

16 February 2020

13

1 reference

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16 February 2020

author name string

Andrew H Crosby

1

1 reference

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16 February 2020

Heema Patel

2

1 reference

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16 February 2020

Kay Gurtz

5

1 reference

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16 February 2020

Michael A Patton

6

1 reference

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16 February 2020

Reza Sharifi

7

1 reference

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16 February 2020

Gaurav Harlalka

8

1 reference

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16 February 2020

Katherine Dick

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Johanna A Reed

11

1 reference

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16 February 2020

Ali Al-Memar

12

1 reference

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16 February 2020

Harold E Cross

14

1 reference

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16 February 2020

Robert N Lightowlers

15

1 reference

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16 February 2020

language of work or name

English

0 references

publication date

21 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 February 2020

published in

1 reference

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16 February 2020

volume

87

1 reference

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16 February 2020

issue

5

1 reference

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16 February 2020

page(s)

655-660

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

Frataxin and mitochondrial FeS cluster biogenesis.

16 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

Human Mitochondrial mRNAs Are Stabilized with Polyadenylation Regulated by Mitochondria-specific Poly(A) Polymerase and Polynucleotide Phosphorylase

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978972

A small polyadenylated RNA (7 S RNA), containing a putative ribosome attachment site, maps near the origin of human mitochondrial DNA replication

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20970105

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.09.013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20970105%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

20970105

1 reference