(Q53612457)

16 May 2018

title

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

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16 May 2018

0 references

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parkinsonian syndrome

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inferred from title

author

Leena Peltonen-Palotie

9

object named as

Leena Peltonen

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16 May 2018

Juha O. Rinne

3

object named as

Juha O Rinne

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16 May 2018

author name string

Petri Luoma

1

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16 May 2018

Atle Melberg

2

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16 May 2018

Jyrki A Kaukonen

4

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16 May 2018

Nina N Nupponen

5

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16 May 2018

Richard M Chalmers

6

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16 May 2018

Anders Oldfors

7

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16 May 2018

Ilkka Rautakorpi

8

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16 May 2018

Kari Majamaa

10

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16 May 2018

Hannu Somer

11

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16 May 2018

Anu Suomalainen

12

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16 May 2018

language of work or name

English

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publication date

1 September 2004

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16 May 2018

number of pages

8

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published in

The Lancet

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16 May 2018

volume

364

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16 May 2018

page(s)

875-882

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16 May 2018

issue

9437

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16 May 2018

Burden of parkinsonism: a population-based study

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Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis

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Mitochondria and degenerative disorders

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Diseases caused by nuclear genes affecting mtDNA stability

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Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

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7 January 2021

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

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Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

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Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports

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Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

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Ocular myopathy with hypogonadism

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Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

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Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing

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7 January 2021

Striatal uptake of a novel PET ligand, [18F]?-CFT, is reduced in early Parkinson's disease

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7 January 2021

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

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Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

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7 January 2021

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

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7 January 2021

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

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7 January 2021

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

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7 January 2021

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

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7 January 2021

Mitochondrial involvement in Parkinson's disease

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7 January 2021

Energetics in the pathogenesis of neurodegenerative diseases

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7 January 2021

MPTP: insights into parkinsonian neurodegeneration

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7 January 2021

Chronic systemic pesticide exposure reproduces features of Parkinson's disease

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7 January 2021

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7 January 2021

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7 January 2021

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia

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7 January 2021

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

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7 January 2021

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

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7 January 2021

Parkinson's disease: piecing together a genetic jigsaw

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7 January 2021

The harlequin mouse mutation downregulates apoptosis-inducing factor

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7 January 2021

Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline

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7 January 2021

10.1016/S0140-6736(04)16983-3

Identifiers

DOI

1 reference

16 May 2018

PubMed ID

15351195

1 reference

16 May 2018