Publications by authors named "Cecile Rouzier"


A new mutation in the mitochondrial tRNA gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Neuromuscul Disord 2016 Dec 16;26(12):885-889. Epub 2016 Sep 16.

Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. Electronic address:

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December 2016

Clinical utility gene card for: Wolfram syndrome.

Eur J Hum Genet 2016 11 25;24(11). Epub 2016 May 25.

Great Ormond Street Hospital, London, UK.

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November 2016

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

J Cyst Fibros 2016 05 23;15(3):309-12. Epub 2016 Apr 23.

Laboratoire de Génétique Moléculaire, CHRU Montpellier, 34093 Montpellier Cedex 5, France; Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA 7402, Université de Montpellier, 34000 Montpellier Cedex 5, France.

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May 2016

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Biol Res 2016 Jan 8;49. Epub 2016 Jan 8.

School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS, Nice Sophia-Antipolis University, 28 av de Valombrose, 06107, Nice Cedex 2, France.

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January 2016