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P73 OPA1 codes for a mitochondrial fusion protein found on the inner mitochondrial membrane

Neuromuscular disorders : NMD, 2010, Vol.20, p.S24-S25

Chinnery, P.F

2010

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Next generation sequencing for neurological diseases: New hope or new hype?

Clinical neurology and neurosurgery, 2013-07, Vol.115 (7), p.948-953

2013

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MRI for the demonstration of subclinical muscle involvement in muscular dystrophy

Clinical radiology, 2007-02, Vol.62 (2), p.160-165

2007

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P31 Genotypic and phenotypic heterogeneity in adult-onset progressive external ophthalmoplegia (PEO) with mitochondrial DNA instability: a systematic review

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S15-S15

2014

Volltextzugriff (PDF)

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation

Parkinsonism & related disorders, 2012-01, Vol.18 (1), p.110-112

2012

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A feasibility study of bezafibrate in mitochondrial myopathy

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S18-S18

2017

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OP41 – 2848: Aminoacyl-tRNA synthetases (ARS) related inherited axonal neuropathies in the North England cohort of CMT patients

European journal of paediatric neurology, 2015-05, Vol.19, p.S14-S14

2015

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P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S14-S14

2014

Volltextzugriff (PDF)

P69 Old dicta and new techniques

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S25-S25

2014

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Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

Neurology, 2011-09, Vol.77 (12), p.1205

2011

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P65 Systematic review of controlled trials in the treatment of mitochondrial disorders

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S25-S25

2012

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G.P.157

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.848-849

2014

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[704] MITOCHONDRIAL DNA HAPLOGROUPS ASSOCIATED WITH HISTOLOGICAL SEVERITY IN NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD)

Journal of hepatology, 2007, Vol.46, p.S265-S266

2007

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O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S4-S5

2012

Volltextzugriff (PDF)

P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S25-S26

2012

Volltextzugriff (PDF)

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S22-S22

2012

Volltextzugriff (PDF)

116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2003-11, Vol.13 (9), p.757-764

2003

Volltextzugriff (PDF)

P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S15-S15

2014

Volltextzugriff (PDF)

P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B -related mitochondrial disease

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S23-S23

2012

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P58 Evidence of early cardiac impairment in m.3243A>G mutation carriers

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S22-S23

2012

Volltextzugriff (PDF)

P47 A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S19-S19

2012

Volltextzugriff (PDF)

IN61-TH-01 Mitochondrial disorders

Journal of the neurological sciences, 2009-10, Vol.285, p.S45-S45

Chinnery, P.F

2009

Volltextzugriff (PDF)

Multi-system neurological disease is common in patients with OPA1 mutations

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786

2010

Volltextzugriff (PDF)

Myotilinopathy – A report on four UK patients

Clinical neurophysiology, 2007, Vol.118 (6), p.e181-e182

2007

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M20 - Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S36-S36

2018

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P73 OPA1 codes for a mitochondrial fusion protein found on the inner mitochondrial membrane

Next generation sequencing for neurological diseases: New hope or new hype?

MRI for the demonstration of subclinical muscle involvement in muscular dystrophy

P31 Genotypic and phenotypic heterogeneity in adult-onset progressive external ophthalmoplegia (PEO) with mitochondrial DNA instability: a systematic review

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation

A feasibility study of bezafibrate in mitochondrial myopathy

OP41 – 2848: Aminoacyl-tRNA synthetases (ARS) related inherited axonal neuropathies in the North England cohort of CMT patients

P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

P69 Old dicta and new techniques

Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

P65 Systematic review of controlled trials in the treatment of mitochondrial disorders

G.P.157

[704] MITOCHONDRIAL DNA HAPLOGROUPS ASSOCIATED WITH HISTOLOGICAL SEVERITY IN NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD)

O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure

P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands

P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance

P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B -related mitochondrial disease

P58 Evidence of early cardiac impairment in m.3243A>G mutation carriers

P47 A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy

IN61-TH-01 Mitochondrial disorders

Multi-system neurological disease is common in patients with OPA1 mutations

Myotilinopathy – A report on four UK patients

M20 - Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant

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