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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

American journal of human genetics, 2012-09, Vol.91 (3), p.533-540

2012

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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

American journal of human genetics, 2013-05, Vol.92 (5), p.774-780

2013

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Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

Frontiers in cellular neuroscience, 2017-02, Vol.11, p.31-31

2017

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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

American journal of human genetics, 2009-07, Vol.85 (1), p.40-52

2009

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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

The Journal of pediatrics, 2017-03, Vol.182, p.371-374.e2

2017

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Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

NeuroImage clinical, 2018-01, Vol.18, p.231-244

2018

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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Molecular therapy. Methods & clinical development, 2018-03, Vol.8 (C), p.152-165

2018

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Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Neuromuscular disorders : NMD, 2013-06, Vol.23 (6), p.461-468

2013

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A multicenter study on Leigh syndrome: disease course and predictors of survival

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52

2014

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Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

European journal of medical genetics, 2023-06, Vol.66 (6), p.104746-104746, Article 104746

2023

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Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

Annals of the New York Academy of Sciences, 2015-09, Vol.1350 (1), p.29-36

2015

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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

2023

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Plasma GDF-15 concentration is not elevated in open-angle glaucoma

PloS one, 2021-05, Vol.16 (5), p.e0252630-e0252630

2021

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Human mutations in integrator complex subunits link transcriptome integrity to brain development

PLoS genetics, 2017-05, Vol.13 (5), p.e1006809-e1006809

2017

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.726-736

2020

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De novo mtDNA point mutations are common and have a low recurrence risk

Journal of medical genetics, 2017-02, Vol.54 (2), p.73

2017

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Brain (London, England : 1878), 2011, Vol.134 (Pt 1), p.210-219

2011

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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.537-551

2018

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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients

Experimental eye research, 2023-07, Vol.232, p.109500-109500, Article 109500

2023

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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency

European journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1789-1795

2021

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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

The lancet. Diabetes & endocrinology, 2019-09, Vol.7 (9), p.695-706

2019

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Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Neuromuscular disorders : NMD, 2021-09, Vol.31 (9), p.859-864

2021

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Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.619-622

2016

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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

A multicenter study on Leigh syndrome: disease course and predictors of survival

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

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

Plasma GDF-15 concentration is not elevated in open-angle glaucoma

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

De novo mtDNA point mutations are common and have a low recurrence risk

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients

Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

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