(Q58451540)

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Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21465257%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients (English)

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Europe PubMed Central

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27 January 2020

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Barbara Castellotti

1

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27 January 2020

Daniela Di Bella

12

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27 January 2020

14

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27 January 2020

15

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27 January 2020

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Caterina Mariotti

2

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27 January 2020

Marco Rimoldi

3

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27 January 2020

Roberto Fancellu

4

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27 January 2020

Massimo Plumari

5

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27 January 2020

Sara Caimi

6

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27 January 2020

Nardo Nardocci

8

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27 January 2020

Giovanna Zorzi

10

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27 January 2020

Davide Pareyson

11

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27 January 2020

Stefano Di Donato

13

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27 January 2020

Graziella Uziel

7

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27 January 2020

Isabella Moroni

9

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27 January 2020

publication date

5 April 2011

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27 January 2020

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27 January 2020

12

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27 January 2020

3

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27 January 2020

193-201

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27 January 2020

https://scigraph.springernature.com/pub.10.1007/s10048-011-0281-x

0 references

Aprataxin gene mutations in Tunisian families

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Mutations in coenzyme Q10 biosynthetic genes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Frataxin gene point mutations in Italian Friedreich ataxia patients

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Aprataxin, a novel protein that protects against genotoxic stress

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Aprataxin mutations are a rare cause of early onset ataxia in Germany

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

DNA single-strand break repair is impaired in aprataxin-related ataxia.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

New autosomal recessive cerebellar ataxias with oculomotor apraxia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Familial cognitive impairment with ataxia with oculomotor apraxia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Human CoQ10 deficiencies

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Atypical presentation of ataxia-oculomotor apraxia type 1.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Pathways to motor incoordination: the inherited ataxias

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Phenotypic variability of aprataxin gene mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0281-X

21 January 2018

Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children

1 reference

https://pubmed.ncbi.nlm.nih.gov/21465257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/21465257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A type of congenital ocular motor apraxia presenting jerky head movements

1 reference

https://pubmed.ncbi.nlm.nih.gov/21465257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21465257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21465257

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-011-0281-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21465257%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21465257%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

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