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Clinical and genetic aspects of defects in the mitochondrial iron–sulfur cluster synthesis pathway

Journal of biological inorganic chemistry, 2018-06, Vol.23 (4), p.495-506

2018

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A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature communications, 2019-10, Vol.10 (1), p.4779-16, Article 4779

2019

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Correction to: Clinical and genetic aspects of defects in the mitochondrial iron–sulfur cluster synthesis pathway

Journal of biological inorganic chemistry, 2018-06, Vol.23 (4), p.507-507

2018

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Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.388-399

2018

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Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature communications, 2019-11, Vol.10 (1), p.5337-1, Article 5337

2019

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Butylated hydroxyanisole is more than a reactive oxygen species scavenger

Cell death and differentiation, 2006-01, Vol.13 (1), p.166-169

2006

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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Acta anaesthesiologica Scandinavica, 2012-04, Vol.56 (4), p.520-525

2012

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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Journal of neurology, neurosurgery and psychiatry, 2010, Vol.81 (1), p.90-93

2010

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Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest

Human reproduction (Oxford), 2020-07, Vol.35 (7), p.1562-1577

2020

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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Clinical infectious diseases, 2006-04, Vol.42 (8), p.1111-1117

2006

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Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

Molecular human reproduction, 2019-12, Vol.25 (12), p.797-810

2019

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Neurology, 2010-09, Vol.75 (13), p.1159-1165

2010

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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

Clinical microbiology and infection, 2018-04, Vol.24 (4), p.431.e1-431.e3

2018

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Visual contribution to walking in children with Developmental Coordination Disorder

Child : care, health & development, 2006-11, Vol.32 (6), p.711-722

2006

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Aminoacylase I deficiency: A novel inborn error of metabolism

Biochemical and biophysical research communications, 2005-12, Vol.338 (3), p.1322-1326

2005

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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

American journal of human genetics, 2000-06, Vol.66 (6), p.1744-1756

2000

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Ultrastructural localization of cytochrome c in apoptosis demonstrates mitochondrial heterogeneity

Cell death and differentiation, 2000-04, Vol.7 (4), p.331-337

2000

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Journal of medical genetics, 2004-02, Vol.41 (2), p.120-124

2004

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Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2

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

2016

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Alexander Disease: Diagnosis with MR Imaging

American journal of neuroradiology : AJNR, 2001-03, Vol.22 (3), p.541-552

2001

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Riboflavin-responsive ACAD9 mutation as cause of familial hypertrophic cardiomyopathy

European journal of paediatric neurology, 2017-06, Vol.21, p.e137-e137

2017

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Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S174-S175

2016

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A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

Clinical genetics, 2012-09, Vol.82 (3), p.264-270

2012

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Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S207-S207

2016

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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q₁₀ deficiency

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.827-827

2007

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Clinical and genetic aspects of defects in the mitochondrial iron–sulfur cluster synthesis pathway

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Correction to: Clinical and genetic aspects of defects in the mitochondrial iron–sulfur cluster synthesis pathway

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Butylated hydroxyanisole is more than a reactive oxygen species scavenger

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest

Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

Visual contribution to walking in children with Developmental Coordination Disorder

Aminoacylase I deficiency: A novel inborn error of metabolism

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Ultrastructural localization of cytochrome c in apoptosis demonstrates mitochondrial heterogeneity

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2

Alexander Disease: Diagnosis with MR Imaging

Riboflavin-responsive ACAD9 mutation as cause of familial hypertrophic cardiomyopathy

Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q₁₀ deficiency

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