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A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype

American journal of medical genetics. Part A, 2024-10, Vol.194 (10), p.e63783-n/a

2024

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Mitochondrial abnormalities in inclusion-body myositis

Neurology, 2006-01, Vol.66 (2 Suppl 1), p.S49

2006

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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.863-872

2015

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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1

European journal of neurology, 2017-04, Vol.24 (4), p.587-593

2017

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

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Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S175-S175

2016

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OP5 – 2696: Pyruvate dehydrogenase complex deficiency: Phenotype–genotype, phenotype–neuroimaging associations and treatment outcomes

European journal of paediatric neurology, 2015-05, Vol.19, p.S2-S2

2015

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535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.711

2024

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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S141

2020

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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.324 Characterization of mitochondrial respiratory chain complexes in reversible infantile respiratory chain deficiency

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S141-S141

2020

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Journal of medical genetics, 2023-01, Vol.60 (1), p.65-73

2023

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Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Neuromuscular disorders : NMD, 2006-08, Vol.16 (8), p.504-506

2006

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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL 1

European journal of neurology, 2017-04, Vol.24 (4), p.587-593

2017

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Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S119

2017

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P.71 - Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S119-S119

2017

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A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy

Neuromuscular disorders : NMD, 2004-01, Vol.14 (1), p.46-50

2004

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M.P.3.06 Genotypes and phenotypes associated with Alpers syndrome

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.829-829

2007

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P.294 - Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S175-S175

2016

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P.66 - Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S118-S118

2017

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Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S118

2017

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Intraperitoneal Application of the Trifunctional Monoclonal Antibody Catumaxomab in Outpatients with Malignant Ascites Related to Various Epithelial Tumors

Annals of oncology, 2014-09, Vol.25, p.iv531

2014

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1521PINTRAPERITONEAL APPLICATION OF THE TRIFUNCTIONAL MONOCLONAL ANTIBODY CATUMAXOMAB IN OUTPATIENTS WITH MALIGNANT ASCITES RELATED TO VARIOUS EPITHELIAL TUMORS

Annals of oncology, 2014-09, Vol.25 (suppl_4), p.iv531-iv531

2014

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POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Journal of neuropathology and experimental neurology, 2006-08, Vol.65 (8), p.758-768

2006

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Phenotypic and genotypic variability in Alpers syndrome

European journal of paediatric neurology, 2012-07, Vol.16 (4), p.379-389

2012

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CD4 T cell activation by myelin oligodendrocyte glycoprotein is suppressed by adult but not cord blood CD25+ T cells

European journal of immunology, 2003-03, Vol.33 (3), p.579-587

2003

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A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype

Mitochondrial abnormalities in inclusion-body myositis

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4)

OP5 – 2696: Pyruvate dehydrogenase complex deficiency: Phenotype–genotype, phenotype–neuroimaging associations and treatment outcomes

535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.324 Characterization of mitochondrial respiratory chain complexes in reversible infantile respiratory chain deficiency

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL 1

Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1

P.71 - Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy

M.P.3.06 Genotypes and phenotypes associated with Alpers syndrome

P.294 - Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4)

P.66 - Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2

Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2

Intraperitoneal Application of the Trifunctional Monoclonal Antibody Catumaxomab in Outpatients with Malignant Ascites Related to Various Epithelial Tumors

1521PINTRAPERITONEAL APPLICATION OF THE TRIFUNCTIONAL MONOCLONAL ANTIBODY CATUMAXOMAB IN OUTPATIENTS WITH MALIGNANT ASCITES RELATED TO VARIOUS EPITHELIAL TUMORS

POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Phenotypic and genotypic variability in Alpers syndrome

CD4 T cell activation by myelin oligodendrocyte glycoprotein is suppressed by adult but not cord blood CD25+ T cells

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