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Reliability and discriminant validity of ataxia rating scales in early onset ataxia

Developmental medicine and child neurology, 2017-04, Vol.59 (4), p.427-432

2017

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Clinical and biochemical spectrum of D-bifunctional protein deficiency

Annals of neurology, 2006-01, Vol.59 (1), p.92-104

2006

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Subtle bilirubin-induced neurodevelopmental dysfunction (BIND) in the term and late preterm infant: Does it exist?

Seminars in perinatology, 2014-11, Vol.38 (7), p.465-471

Lunsing, Roelineke J., PhD, MD

2014

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Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

Frontiers in human neuroscience, 2017-12, Vol.11, p.605-605

2017

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Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

European radiology, 2017-03, Vol.27 (3), p.976-984

2017

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192

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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Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia

Developmental medicine and child neurology, 2020-01, Vol.62 (1), p.75-82

2020

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356

2022

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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Neuropediatrics, 2021-12, Vol.52 (6), p.489

2021

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Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting

European journal of paediatric neurology, 2020-03, Vol.25, p.172-180

2020

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Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.981-995

2022

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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Neurology, 2013-04, Vol.80 (17), p.1577

2013

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Neurodevelopment after moderate hyperbilirubinemia at term

Pediatric research, 2013-05, Vol.73 (5), p.655-660

2013

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Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP

Pediatrics (Evanston), 2012-10, Vol.130 (4), p.e1005

2012

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Reliability of phenotypic early‐onset ataxia assessment: a pilot study

Developmental medicine and child neurology, 2016-01, Vol.58 (1), p.70-76

2016

Volltextzugriff (PDF)

The neurological phenotype of developmental motor patterns during early childhood

Brain and behavior, 2019-01, Vol.9 (1), p.e01153-n/a

2019

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Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

European journal of paediatric neurology, 2018-05, Vol.22 (3), p.536-540

2018

Volltextzugriff (PDF)

Assessment of speech in early‐onset ataxia: a pilot study

Developmental medicine and child neurology, 2014-12, Vol.56 (12), p.1202-1206

2014

Volltextzugriff (PDF)

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

Human mutation, 2009, Vol.30 (1), p.29-38

2009

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Neonatal seizures: Aetiology by means of a standardized work-up

European journal of paediatric neurology, 2014-05, Vol.18 (3), p.360-367

2014

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The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children

Movement disorders clinical practice (Hoboken, N.J.), 2016-11, Vol.3 (6), p.580-586

2016

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Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Molecular genetics and metabolism, 2007-07, Vol.91 (3), p.294-296

2007

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Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay

European journal of paediatric neurology, 2009-03, Vol.13 (2), p.181-190

2009

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Reliability and discriminant validity of ataxia rating scales in early onset ataxia

Clinical and biochemical spectrum of D-bifunctional protein deficiency

Subtle bilirubin-induced neurodevelopmental dysfunction (BIND) in the term and late preterm infant: Does it exist?

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

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

Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Neurodevelopment after moderate hyperbilirubinemia at term

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP

Reliability of phenotypic early‐onset ataxia assessment: a pilot study

The neurological phenotype of developmental motor patterns during early childhood

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

Assessment of speech in early‐onset ataxia: a pilot study

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

Neonatal seizures: Aetiology by means of a standardized work-up

The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children

Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay

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