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List of works by Christian G E L de Goede

Acquired transverse myelopathy in children in the United Kingdom--a 2 year prospective study.

scientific article published on 25 January 2010

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

scientific article

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

scientific article published on 16 October 2013

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

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

scientific article published on 5 November 2015

Comparison of antiepileptic drugs, no treatment, or placebo for children with benign epilepsy with centro temporal spikes

scientific article

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

scientific article published on 5 October 2014

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

scientific article published on 10 April 2017

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

scientific article published on 06 March 2010

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

scientific article published on 2 February 2010

How to use tests for disorders of copper metabolism.

scientific article published on 27 July 2017

Investigation of developmental delay

scientific article published on 18 January 2018

Maternally inherited mitochondrial DNA disease in consanguineous families

scientific article published on 29 June 2011

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

scientific article

Mutation of TBCK causes a rare recessive developmental disorder

scientific article published on 24 May 2016

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

scientific article

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

scientific article published in August 2019

Progressive late-onset myelopathy and arachnoiditis following neonatal meningitis

scientific article published on 26 March 2008

Reading comprehension difficulties in children with rolandic epilepsy

scientific article published on 14 December 2017

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

scientific article

Severe progressive late onset myelopathy and arachnoiditis following neonatal meningitis.

scientific article published in January 2006

Urinary problems following acute transverse myelitis in children

scientific article published on 01 March 2002

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