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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Neurology, 2015-02, Vol.84 (7), p.668

2015

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Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy

PloS one, 2021-11, Vol.16 (11), p.e0260491-e0260491

2021

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A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

Journal of medical genetics, 2014-02, Vol.51 (2), p.76-82

2014

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Neuropediatrics, 2017-06, Vol.48 (3), p.166

2017

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Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

Molecular genetics and metabolism, 2014-12, Vol.113 (4), p.301-306

2014

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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Archives of disease in childhood, 2022-02, Vol.107 (2), p.160

2022

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Acquired transverse myelopathy in children in the United Kingdom – A 2 year prospective study

European journal of paediatric neurology, 2010-11, Vol.14 (6), p.479-487

2010

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Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort

Journal of neurology, neurosurgery and psychiatry, 2014-04, Vol.85 (4), p.456-461

2014

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Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features

Multiple sclerosis, 2013-01, Vol.19 (1), p.76-86

2013

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Brain (London, England : 1878), 2019-06, Vol.142 (6), p.1547-1560

2019

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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Neuromuscular disorders : NMD, 2010-04, Vol.20 (4), p.241-250

2010

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Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

European journal of paediatric neurology, 2016-03, Vol.20 (2), p.286-295

2016

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study

Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169

2013

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Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy

Developmental medicine and child neurology, 2005-12, Vol.47 (12), p.835-837

2005

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Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

Pediatric neurology, 2016-01, Vol.54, p.49-54

2016

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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain communications, 2023, Vol.5 (5), p.fcad222-fcad222

2023

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Renal function after pediatric cardiac transplantation: the effect of early cyclosporin dosage

Pediatrics (Evanston), 2001-06, Vol.107 (6), p.1346

2001

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Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis

Child's nervous system, 2008-06, Vol.24 (6), p.675-675

2008

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Maternally inherited mitochondrial DNA disease in consanguineous families

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1226-1229

2011

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Urinary problems following acute transverse myelitis in children

Developmental medicine and child neurology, 2002-03, Vol.44 (3), p.212-214

GEL de Goede, Christian

2002

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Investigation of developmental delay

Archives of disease in childhood, 2018-05, Vol.103 (5), p.523

2018

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Text integration processes in children with Childhood Epilepsy with Centro-Temporal Spikes

Epilepsy research, 2023-05, Vol.192, p.107136-107136, Article 107136

2023

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The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The Lancet (British edition), 2021-04, Vol.397 (10282), p.1363-1374

2021

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The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The Lancet (British edition), 2021-04, Vol.397 (10282), p.1375-1386

2021

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How to use tests for disorders of copper metabolism

Archives of disease in childhood. Education and practice edition, 2017-12, Vol.102 (6), p.319

2017

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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Acquired transverse myelopathy in children in the United Kingdom – A 2 year prospective study

Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy

Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Renal function after pediatric cardiac transplantation: the effect of early cyclosporin dosage

Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis

Maternally inherited mitochondrial DNA disease in consanguineous families

Urinary problems following acute transverse myelitis in children

Investigation of developmental delay

Text integration processes in children with Childhood Epilepsy with Centro-Temporal Spikes

The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

How to use tests for disorders of copper metabolism

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