S. Koene

发表

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.

S. Wortmann, J. Smeitink, M. Vries, 2009, Journal of affective disorders.

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

R. Rodenburg, H. Knoop, J. Smeitink, 2016, Orphanet Journal of Rare Diseases.

Insight into Performance of Daily Activities in Real Life of A Child with Limited Physical, Cognitive and Communication Abilities: A Case Report

E. Steultjens, M. N. D. Nijhuis-van der Sanden, M. Graff, 2021, Journal of Occupational Therapy, Schools, & Early Intervention.

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

J. Smeitink, J. Beyrath, P. Pickkers, 2018, Clinical pharmacology and therapeutics.

Muscle pain, fatigue and night hypothermia in association with mitochondrial dysfunction

R. Rodenburg, J. Smeitink, E. Morava, 2009, Journal of Pediatric Neurology.

Depressive behaviour in children diagnosed with a mitochondrial disorder.

E. Morava, R. Rodenburg, C. Verhaak, 2010, Mitochondrion.

The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder

E. Steultjens, M. Graff, I. D. de Groot, 2022, Disability and rehabilitation.

Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges

E. Steultjens, M. N. D. Nijhuis-van der Sanden, M. Graff, 2022, Physical & occupational therapy in pediatrics.

Serum GDF 15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain , but Not to Disease Progression in Adult m . 3243 A > G Carriers

D. Vriens, J. Timmermans, J. Smeitink, 2018 .

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

D. Vriens, J. Timmermans, J. Smeitink, 2015, JIMD reports.

Serum FGF21 levels in adult m.3243A>G carriers

D. Vriens, R. Rodenburg, J. Smeitink, 2014, Neurology.

The Phenotypic Continuum of ATPLA3-Related Disorders.

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

S. Wortmann, J. Smeitink, E. Morava, 2013, Mitochondrion (Amsterdam. Print).

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

M. Haak, J. Knijnenburg, M. Hoffer, 2022, American journal of medical genetics. Part A.

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

V. Wong, J. Smeitink, C. Fung, 2021, Epilepsia open.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

Psychological functioning in children suspected for mitochondrial disease: the need for care

J. Smeitink, J. Custers, C. Verhaak, 2020, Orphanet Journal of Rare Diseases.

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2012, Journal of Inherited Metabolic Disease.

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

L. Kluijtmans, R. Wevers, E. Morava, 2008, Clinical Dysmorphology.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

G. Mortier, H. V. van Duyvenvoorde, E. Espiner, 2022, Journal of the Endocrine Society.

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients

D. Turnbull, C. Saris, J. Smeitink, 2019, JIMD reports.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

N. van Alfen, H. Smeets, B. V. van Engelen, 2021, BMC Neurology.

Outcome Measures and Quality of Life in Mitochondrial Diseases

C. Jimenez-Moreno, G. Gorman, S. Koene, 2019, Diagnosis and Management of Mitochondrial Disorders.

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

J. Smeitink, B. Goraj, C. Fung, 2017, Mitochondrion.

New treatments for mitochondrial disease—no time to drop our standards

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction

J. Smeitink, S. Koene, 2010, Journal of Inherited Metabolic Disease.

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency

J. Smeitink, P. Willems, W. Koopman, 2011, Journal of Inherited Metabolic Disease.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

E. Bertini, S. Rahman, S. Parikh, 2018, Journal of Inherited Metabolic Disease.

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant

J. Smeitink, N. Roeleveld, M. Janssen, 2020, Journal of Medical Genetics.

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

R. Rodenburg, J. Smeitink, M. Janssen, 2012 .

Mitochondrial medicine: entering the era of treatment

J. Smeitink, S. Koene, J. Smeitink, 2009, Journal of internal medicine.

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study

C. D. de Korte, J. Timmermans, J. Smeitink, 2017, Journal of Inherited Metabolic Disease.

Towards the harmonisation of outcome measures for children with mitochondrial disease

S. Koene, 2016 .

The Perspectives and Values of Children with a Mitochondrial Disorder with Regard to Everyday Activities

E. Steultjens, M. N. D. Nijhuis-van der Sanden, I. D. de Groot, 2019, Journal of Developmental and Physical Disabilities.

The Perspectives and Values of Children with a Mitochondrial Disorder with Regard to Everyday Activities

E. Steultjens, M. N. D. Nijhuis-van der Sanden, I. D. de Groot, 2019, Journal of Developmental and Physical Disabilities.

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

M. Haak, A. van Haeringen, M. Bootsma, 2022, American journal of medical genetics. Part A.

KH 176 under development for rare mitochondrial disease : a first in man randomized controlled clinical trial in healthy male volunteers

F. Badilini, L. Bortel, J. Smeitink, 2018 .

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

F. Badilini, L. V. Van Bortel, J. Smeitink, 2017, Orphanet Journal of Rare Diseases.

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2016, EMBO molecular medicine.

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2016, EMBO molecular medicine.

International Paediatric Mitochondrial Disease Scale

Marni J. Falk, V. Wong, J. Hendriks, 2016, Journal of Inherited Metabolic Disease.

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

R. Rodenburg, J. Smeitink, M. Janssen, 2012, Journal of Inherited Metabolic Disease.

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

J. Smeitink, I. D. de Groot, M. Janssen, 2019, Mitochondrion.

Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review

E. Steultjens, M. N. D. Nijhuis-van der Sanden, I. D. de Groot, 2018, Occupational therapy international.

Quantification of gait in children with mitochondrial disease

J. Smeitink, M. D. De Vries, M. Janssen, 2018, Journal of Inherited Metabolic Disease.

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.

K. Meijer, J. Smeitink, I. D. de Groot, 2017, JIMD reports.

Assisted 6‐minute cycling test: An exploratory study in children

M. Jansen, I. Groot, S. Koene, 2016, Muscle & nerve.

Towards the harmonization of outcome measures in children with mitochondrial disorders

J. Smeitink, C. Verhaak, M. Jansen, 2013, Developmental medicine and child neurology.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Fear of disease progression in carriers of the m.3243A > G mutation

J. Smeitink, J. Custers, C. Verhaak, 2018, Orphanet Journal of Rare Diseases.

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases

R. Rodenburg, J. Smeitink, P. Willems, 2013, Neurobiology of Disease.

Inheritance of the m.3243A>G mutation.

R. Rodenburg, J. Smeitink, M. Janssen, 2013, JIMD reports.

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

J. Smeitink, M. Janssen, J. Groothuis, 2017, Orphanet Journal of Rare Diseases.

Mitochondrial medicine

J. Smeitink, S. Koene, 2011, Journal of Inherited Metabolic Disease.

Mitochondrial migraine; a prevalence, impact and treatment efficacy cohort study.

S. Koene, Laurie H Tiehuis, Christiaan Gj Saris, 2020, Mitochondrion.

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

L. D. de Vries, G. Santen, C. Peeters-Scholte, 2020, American journal of medical genetics. Part A.

Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilities.

E. Steultjens, M. N. D. Nijhuis-van der Sanden, M. Graff, 2023, Australian occupational therapy journal.

DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults.

T. Ley, M. Oberley, S. Heath, 2021, Blood.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

V. Verhoeven, A. B. Mink van der Molen, J. K. Ploos van Amstel, 2023, Molecular Syndromology.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

in children : toward development of small-molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2018 .

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

L. Kluijtmans, R. Wevers, E. Morava, 2008, Clinical dysmorphology.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

The Phenotypic Continuum of ATP1A3-Related Disorders

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.