(Q35859641)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

case report

0 references

title

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

0 references

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Francesca Magri

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Nereo Bresolin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Giacomo P Comi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Stefania Corti

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Michela Ranieri

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Roberto Del Bo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Irene Colombo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Giulietta Riboldi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Alessandra Cosi

7

1 reference

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19 January 2020

Maura Servida

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Andreina Bordoni

3

1 reference

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19 January 2020

Maurizio Moggio

10

1 reference

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19 January 2020

publication date

22 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

19 January 2020

published in

1 reference

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19 January 2020

volume

315

1 reference

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19 January 2020

issue

1-2

1 reference

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19 January 2020

page(s)

146-149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

OPA1-associated disorders: phenotypes and pathophysiology.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Inherited mitochondrial optic neuropathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Mitochondrial dynamics and disease, OPA1

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

eOPA1: an online database for OPA1 mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3315002

Hereditary optic neuropathies

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22197506

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JNS.2011.12.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22197506%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

22197506

1 reference