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Inherited mitochondrial optic neuropathies

Journal of medical genetics, 2009-03, Vol.46 (3), p.145-158

2009

Volltextzugriff (PDF)

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Neurology, 2009-05, Vol.72 (18), p.1544

2009

Volltextzugriff (PDF)

Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.e230-e230

2013

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T2 and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

Neurology, 2008-04, Vol.70 (18), p.1614

2008

Volltextzugriff (PDF)

Treatment strategies for inherited optic neuropathies: past, present and future

Eye (London), 2014-05, Vol.28 (5), p.521-537

2014

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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182

2011

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The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

American journal of human genetics, 2003-02, Vol.72 (2), p.333-339

2003

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Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

Journal of internal medicine, 2020-06, Vol.287 (6), p.634-644

2020

Volltextzugriff (PDF)

Leber hereditary optic neuropathy

Journal of medical genetics, 2002-03, Vol.39 (3), p.162-169

2002

Volltextzugriff (PDF)

The minimum prevalence of CADASIL in northeast England

Neurology, 2012-03, Vol.78 (13), p.1025

2012

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Mitochondria

Journal of neurology, neurosurgery and psychiatry, 2003-09, Vol.74 (9), p.1188-1199

2003

Volltextzugriff (PDF)

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Nature genetics, 1999-10, Vol.23 (2), p.147-147

1999

Volltextzugriff (PDF)

Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age

American journal of human genetics, 2001-03, Vol.68 (3), p.802-806

2001

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The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

American journal of human genetics, 2003-03, Vol.72 (3), p.659-670

2003

Volltextzugriff (PDF)

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

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

2010

Volltextzugriff (PDF)

Clinical features of hereditary spastic paraplegia due to spastin mutation

Neurology, 2006-07, Vol.67 (1), p.45

2006

Volltextzugriff (PDF)

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

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

2011

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The epidemiology of pathogenic mitochondrial DNA mutations

Annals of neurology, 2000-08, Vol.48 (2), p.188-193

2000

Volltextzugriff (PDF)

OPA1 increases the risk of normal but not high tension glaucoma

Journal of medical genetics, 2010-02, Vol.47 (2), p.120-125

2010

Volltextzugriff (PDF)

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Neurology, 2005-01, Vol.64 (2), p.371

2005

Volltextzugriff (PDF)

Mitochondrial disease in adults: a scale to monitor progression and treatment

Neurology, 2006-06, Vol.66 (12), p.1932

2006

Volltextzugriff (PDF)

Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets

Diabetologia, 2008-08, Vol.51 (8), p.1440-1443

2008

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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Neurology, 2003-04, Vol.60 (8), p.1354

2003

Volltextzugriff (PDF)

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

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

2013

Volltextzugriff (PDF)

Transmission of mitochondrial DNA disorders: possibilities for the future

The Lancet (British edition), 2006-07, Vol.368 (9529), p.87-89

2006

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Inherited mitochondrial optic neuropathies

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy

T2 and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

Treatment strategies for inherited optic neuropathies: past, present and future

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

Leber hereditary optic neuropathy

The minimum prevalence of CADASIL in northeast England

Mitochondria

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age

The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

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

Clinical features of hereditary spastic paraplegia due to spastin mutation

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

The epidemiology of pathogenic mitochondrial DNA mutations

OPA1 increases the risk of normal but not high tension glaucoma

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Mitochondrial disease in adults: a scale to monitor progression and treatment

Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

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

Transmission of mitochondrial DNA disorders: possibilities for the future

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