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Cécile Rouzier

University of Nice Sophia Antipolis

32

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1103

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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

2016 Brain
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A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

2016 Neuromuscular Disorders
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Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

2016 Biological Research
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Table 4. [CHCHD10 Variants Discussed in This GeneReview].

2015
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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

2015 Brain
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CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy

2015 Annals of Neurology
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Table 1. [Molecular Genetic Testing Used in CHCHD10-related Disorders].

2015
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Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

2015 Clinical Genetics
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Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.

2015 Journal of the Neurological Sciences
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[Table, GeneReview Scope].

2015
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