(Q45939718)

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Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. (English)

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

1 reference

based on heuristic

inferred from title

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based on heuristic

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Hanns Lochmüller

10

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

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Rita Horvath

13

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Patrick F. Chinnery

11

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Patrick F Chinnery

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

8

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Angela Abicht

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Elke Holinski-Feder

9

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Elke Holinski-Feder

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

6

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Gavin Hudson

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

2

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Birgit Czermin

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Thomas Klopstock

12

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Thomas Klopstock

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

4

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Stefanie Bulst

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

author name string

Maggie C Walter

1

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Solvig Muller-Ziermann

3

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Joanna D Stewart

5

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Peter Schneiderat

7

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

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publication date

20 April 2010

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Europe PubMed Central

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18 December 2017

http://europepmc.org/abstract/MED/20405137

number of pages

7

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Journal of Neurology

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Europe PubMed Central

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18 December 2017

http://europepmc.org/abstract/MED/20405137

257

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

9

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

1517-1523

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

https://scigraph.springernature.com/pub.10.1007/s00415-010-5565-9

0 references

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited mitochondrial diseases of DNA replication

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https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20405137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-010-5565-9

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20405137

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