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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

Neurology, 2010-05, Vol.74 (20), p.1619

2010

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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Neurology, 2011-06, Vol.76 (23), p.2032

2011

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Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

Journal of neurology, 2013, Vol.260 (1), p.3-9

2013

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Homoplasmy, heteroplasmy, and mitochondrial dystonia

Neurology, 2007-08, Vol.69 (9), p.911

2007

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

Journal of medical genetics, 2009-03, Vol.46 (3), p.209-214

2009

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Somatic mitochondrial DNA mutations in adult-onset leukaemia

Leukemia, 2003-12, Vol.17 (12), p.2487-2491

2003

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Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

Neurobiology of aging, 2001-03, Vol.22 (2), p.265-272

2001

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Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

Neurology, 2009-02, Vol.72 (6), p.568

2009

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Mitochondrial DNA deletion in “identical” twin brothers

Journal of medical genetics, 2004-02, Vol.41 (2), p.e19-19

2004

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Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder

Journal of neuropathology and experimental neurology, 2000-07, Vol.59 (7), p.621-627

2000

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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

Neurology, 2004-04, Vol.62 (8), p.1420

2004

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POG08 Novel mitochondrial tRNA mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.e50-e50

2010

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Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy

Neuromuscular disorders : NMD, 2005-11, Vol.15 (11), p.768-774

2005

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Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD

Neurology, 2001-07, Vol.57 (2), p.260

2001

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Role of Mitochondrial DNA Mutations in Disease and Aging

Annals of the New York Academy of Sciences, 2000-06, Vol.908 (1), p.199-207

2000

Volltextzugriff (PDF)

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature communications, 2021-02, Vol.12 (1), p.1135-13, Article 1135

2021

Volltextzugriff (PDF)

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.323-334

2014

Volltextzugriff (PDF)

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

Brain (London, England : 1878), 2008-11, Vol.131 (11), p.2832-2840

2008

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The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Neurology, 2016-05, Vol.86 (20), p.1921

2016

Volltextzugriff (PDF)

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

Nucleic acids research, 2002-07, Vol.30 (14), p.e68

2002

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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Neurology, 2013-12, Vol.81 (23), p.2051

2013

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A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

The FEBS journal, 2005-07, Vol.272 (14), p.3583-3592

2005

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LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.623-627

2005

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Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

European journal of human genetics : EJHG, 2012-08, Vol.20 (8), p.897-904

2012

Volltextzugriff (PDF)

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

European journal of human genetics : EJHG, 2004-09, Vol.12 (9), p.778-781

2004

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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

Homoplasmy, heteroplasmy, and mitochondrial dystonia

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

Somatic mitochondrial DNA mutations in adult-onset leukaemia

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

Mitochondrial DNA deletion in “identical” twin brothers

Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

POG08 Novel mitochondrial tRNA mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness

Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy

Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD

Role of Mitochondrial DNA Mutations in Disease and Aging

POLRMT mutations impair mitochondrial transcription causing neurological disease

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

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