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List of works by René de Coo

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes ⬇️

scientific article published on 01 January 1998

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Combined cardiological and neurological abnormalities due to filamin A gene mutation ⬇️

scientific article published on August 22, 2010

De novo mtDNA point mutations are common and have a low recurrence risk.

scientific article

Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease ⬇️

scientific article published on June 1, 1998

Facial‐muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy ⬇️

scientific article published on October 19, 2011

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

scientific article published on 13 February 2018

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

scientific article published on 20 June 2016

Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ⬇️

scientific article published on July 1, 1998

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities ⬇️

scientific article published on March 17, 2011

Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect ⬇️

scientific article published on May 10, 2011

Lung disease in FLNA mutation: Confirmatory report ⬇️

scientific article published on December 29, 2010

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities ⬇️

scientific article published on July 1, 1997

Molecular Cloning and Characterization of the Human Mitochondrial NADH:Oxidoreductase 10-kDa Gene (NDUFV3) ⬇️

scientific article published on October 15, 1997

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene ⬇️

scientific article published on April 10, 1995

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

scientific article published on 31 October 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

scientific article

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

scientific article published on 06 January 2020

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

scientific article

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

scientific article

Using urine to diagnose large-scale mtDNA deletions in adult patients

scientific article published on 07 July 2020

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