Gerardine Quaghebeur

Oxford, ENG OX39DU, United Kingdom

Last Updated: 09/26/2026

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Found 24 publications

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Journal: American journal of human genetics
Published: May 01, 2018

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.

Journal: Journal of clinical medicine
Published: June 19, 2017

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Journal: Nature genetics
Published: February 01, 2017

Transverse Myelitis and Neuromyelitis Optica Spectrum Disorders.

Transverse Myelitis and Neuromyelitis Optica Spectrum Disorders.

Journal: Seminars in ultrasound, CT, and MR
Published: September 13, 2016

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Journal: Neuromuscular disorders : NMD
Published: May 01, 2016

Neuroimaging findings of babies with microcephaly and presumed congenital Zika virus infection.

Neuroimaging findings of babies with microcephaly and presumed congenital Zika virus infection.

Journal: BMJ (Clinical research ed.)
Published: April 17, 2016

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Journal: Clinical case reports
Published: March 02, 2016

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Journal: Clinical genetics
Published: January 29, 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Journal: Nature genetics
Published: September 14, 2015

MRI differential diagnosis of suspected multiple sclerosis.

MRI differential diagnosis of suspected multiple sclerosis.

Journal: Clinical radiology
Published: September 01, 2015

Tractography Study of Deep Brain Stimulation of the Anterior Cingulate Cortex in Chronic Pain: Key to Improve the Targeting.

Tractography Study of Deep Brain Stimulation of the Anterior Cingulate Cortex in Chronic Pain: Key to Improve the Targeting.

Journal: World neurosurgery
Published: July 16, 2015

Role of radiology in central nervous system stimulation.

Role of radiology in central nervous system stimulation.

Journal: The British journal of radiology
Published: February 26, 2015
Showing 1-12 of 24

Last Updated: 09/26/2026