(Q57085813)

Maria Grazia D'Angelo

8

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Uberto Pozzoli

Uberto Pozzoli

7

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Manuela Sironi

Manuela Sironi

6

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Maria Teresa Bassi

Maria Teresa Bassi

18

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Giovanni Meola

Giovanni Meola

9

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Andrea Martinuzzi

Andrea Martinuzzi

10

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Alessandra Renieri

Alessandra Renieri

14

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Giacomo P Comi

Giacomo Pietro Comi

15

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Nereo Bresolin

Nereo Bresolin

17

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author name string

Alessia Arnoldi

1

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Alessandra Tonelli

2

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Francesca Crippa

3

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Gaetano Villani

4

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Claudia Crimella

11

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Francesca Redaelli

12

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Chris Panzeri

13

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Anna Carla Turconi

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

16

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publication date

16 January 2008

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published in

Human Mutation

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volume

29

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issue

4

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page(s)

522-531

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Mitochondrial fusion and fission in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

AAA+ proteins: have engine, will work

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

The UCSC Table Browser data retrieval tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Silencers regulate both constitutive and alternative splicing events in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2-mediated oxidative insult in H9C2 myocardial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Biased distribution of inverted and direct Alus in the human genome: implications for insertion, exclusion, and genome stability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021

Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20682

7 January 2021