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An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

American journal of human genetics, 2012-10, Vol.91 (4), p.737-743

2012

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Hybridization and back-crossing in giant petrels (Macronectes giganteus and M. halli) at Bird Island, South Georgia, and a summary of hybridization in seabirds

PloS one, 2015-03, Vol.10 (3), p.e0121688-e0121688

2015

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SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Nature genetics, 1998-12, Vol.20 (4), p.337-343

1998

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Range expansion and hybridization in Round Island petrels (Pterodroma spp.): evidence from microsatellite genotypes

Molecular ecology, 2010-08, Vol.19 (15), p.3157-3170

2010

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Social parasitism by male-producing reproductive workers in a eusocial insect

Nature, 2004-07, Vol.430 (6999), p.557-560

2004

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Phylogenetic relationships in Pterodroma petrels are obscured by recent secondary contact and hybridization

PloS one, 2011-05, Vol.6 (5), p.e20350-e20350

2011

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3503-3519

2015

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SURF1 deficiency: a multi-centre natural history study

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.96-96, Article 96

2013

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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Human genetics, 2019-12, Vol.138 (11-12), p.1313-1322

2019

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Which adverse events should be reported in an emergency department? A Delphi study

European journal of emergency medicine, 2017-04, Vol.24 (2), p.108

2017

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Effect of the queen on worker reproduction and new queen production in the bumble bee Bombus terrestris

Apidologie, 2007-03, Vol.38 (2), p.171-180

2007

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Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Annals of neurology, 2005-08, Vol.58 (2), p.234-241

2005

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Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

European journal of paediatric neurology, 2010-07, Vol.14 (4), p.349-353

2010

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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

Human genetics, 2008-09, Vol.124 (2), p.187-193

2008

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

JIMD Reports, Volume 15, 2015, Vol.15, p.13-27

2015

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A SURF1 gene mutation presenting as isolated leukodystrophy

Annals of neurology, 2001-06, Vol.49 (6), p.797-800

2001

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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

Human genetics, 2004-07, Vol.115 (2), p.123-127

2004

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Characterization of polymorphic microsatellite loci from Round Island Petrels (Pterodroma arminjoniana) and their utility in other seabird species

Journal of ornithology, 2009, Vol.150 (4), p.925-929

2009

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Pyruvate dehydrogenase E3 binding protein deficiency

Human genetics, 2002-02, Vol.110 (2), p.187-191

2002

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An Oral Health Education Program for Latino Immigrant Parents

The Journal of school nursing, 2005-10, Vol.21 (5), p.266

2005

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Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

The journal of histochemistry and cytochemistry, 2002-07, Vol.50 (7), p.877-884

2002

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Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondria

Mitochondrion, 2002-02, Vol.1 (4), p.327-338

2002

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Communication Patterns in a UK Emergency Department

Annals of emergency medicine, 2007-10, Vol.50 (4), p.407-413

2007

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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Hybridization and back-crossing in giant petrels (Macronectes giganteus and M. halli) at Bird Island, South Georgia, and a summary of hybridization in seabirds

SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Range expansion and hybridization in Round Island petrels (Pterodroma spp.): evidence from microsatellite genotypes

Social parasitism by male-producing reproductive workers in a eusocial insect

Phylogenetic relationships in Pterodroma petrels are obscured by recent secondary contact and hybridization

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

SURF1 deficiency: a multi-centre natural history study

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Which adverse events should be reported in an emergency department? A Delphi study

Effect of the queen on worker reproduction and new queen production in the bumble bee Bombus terrestris

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency

Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

A SURF1 gene mutation presenting as isolated leukodystrophy

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

Characterization of polymorphic microsatellite loci from Round Island Petrels (Pterodroma arminjoniana) and their utility in other seabird species

Pyruvate dehydrogenase E3 binding protein deficiency

An Oral Health Education Program for Latino Immigrant Parents

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondria

Communication Patterns in a UK Emergency Department

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