Derouault P - Search Results

1

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.

Mafi S, Laroche-Raynaud C, Chazelas P, Lia AS, Derouault P, Sturtz F, Baaj Y, Froget R, Rio M, Benoist JF, Poumeaud F, Favreau F, Faye PA. Mafi S, et al. Among authors: derouault p. Brain Sci. 2020 Oct 22;10(11):762. doi: 10.3390/brainsci10110762. Brain Sci. 2020. PMID: 33105619 Free PMC article.

2

One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.

Miressi F, Magdelaine C, Cintas P, Bourthoumieux S, Nizou A, Derouault P, Favreau F, Sturtz F, Faye PA, Lia AS. Miressi F, et al. Among authors: derouault p. Brain Sci. 2020 Dec 15;10(12):986. doi: 10.3390/brainsci10120986. Brain Sci. 2020. PMID: 33333791 Free PMC article.

3

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA. Chautard R, et al. Among authors: derouault p. BMC Med Genomics. 2020 Jan 29;13(1):12. doi: 10.1186/s12920-020-0665-6. BMC Med Genomics. 2020. PMID: 31996215 Free PMC article.

4

A mutation can hide another one: Think Structural Variants!

Miressi F, Faye PA, Pyromali I, Bourthoumieux S, Derouault P, Husson M, Favreau F, Sturtz F, Magdelaine C, Lia AS. Miressi F, et al. Among authors: derouault p. Comput Struct Biotechnol J. 2020 Aug 2;18:2095-2099. doi: 10.1016/j.csbj.2020.07.021. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32832037 Free PMC article.

5

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.

Pyromali I, Benslimane N, Favreau F, Goizet C, Lazaro L, Vitry M, Derouault P, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Among authors: derouault p. J Pers Med. 2022 Feb 3;12(2):212. doi: 10.3390/jpm12020212. J Pers Med. 2022. PMID: 35207700 Free PMC article.

6

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS. Lerat J, et al. Among authors: derouault p. Mol Genet Genomic Med. 2019 Sep;7(9):e875. doi: 10.1002/mgg3.875. Epub 2019 Jul 23. Mol Genet Genomic Med. 2019. PMID: 31338985 Free PMC article.

7

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.

Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Among authors: derouault p. Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34429846 Free PMC article.

8

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Lerat J, Magdelaine C, Beauvais-Dzugan H, Espil C, Ghorab K, Latour P, Derouault P, Sturtz F, Lia AS. Lerat J, et al. Among authors: derouault p. J Peripher Nerv Syst. 2019 Mar;24(1):139-144. doi: 10.1111/jns.12310. Epub 2019 Feb 26. J Peripher Nerv Syst. 2019. PMID: 30734407

9

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

Derouault P, Chauzeix J, Rizzo D, Miressi F, Magdelaine C, Bourthoumieu S, Durand K, Dzugan H, Feuillard J, Sturtz F, Mérillou S, Lia AS. Derouault P, et al. PLoS Comput Biol. 2020 Feb 12;16(2):e1007503. doi: 10.1371/journal.pcbi.1007503. eCollection 2020 Feb. PLoS Comput Biol. 2020. PMID: 32049956 Free PMC article.

10

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.

Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C. Lafontaine M, et al. Among authors: derouault p. Ann Clin Transl Neurol. 2021 Feb;8(2):471-476. doi: 10.1002/acn3.51175. Epub 2021 Jan 6. Ann Clin Transl Neurol. 2021. PMID: 33405357 Free PMC article.

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