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Rouzier, Cécile
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1

Primary mitochondrial disorders and mimics: Insights from a..:

Rouzier, Cécile ; Pion, Emmanuelle ; Chaussenot, Annabelle...
Annals of Clinical and Translational Neurology.  11 (2024)  6 - p. 1478-1491 , 2024
Link: https://doi.org/10.1002/..
 
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2

UQCRC2-related mitochondrial complex III deficiency, about ..:

Bansept, Claire ; Gaignard, Pauline ; Lebigot, Elise...
Mitochondrion.  68 (2023)  - p. 138-144 , 2023
Link: https://doi.org/10.1016/..
 
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3

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial D..:

Serag, Mounir ; Plutino, Morgane ; Charles, Perrine...
Genes.  14 (2023)  12 - p. 2154 , 2023
Link: https://doi.org/10.3390/..
 
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4

Autosomal recessive pathogenic MSTO1 variants in hereditary..:

Gerber, Sylvie ; Lessard, Lola ; Rouzier, Cécile...
EMBO Molecular Medicine.  15 (2023)  8 - p. , 2023
Link: https://doi.org/10.15252..
 
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5

Splicing variants in NARS2 are associated with milder pheno..:

Ait-El-Mkadem Saadi, Samira ; Kaphan, Elsa ; Morales Jaurrieta, Amaya...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104643 , 2022
Link: https://doi.org/10.1016/..
 
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6

Improved detection of mitochondrial DNA instability in mito..:

Bris, Celine ; Goudenège, David ; Desquiret-Dumas, Valerie...
Genetics in Medicine.  23 (2021)  9 - p. 1769-1778 , 2021
Link: https://doi.org/10.1038/..
 
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7

Psychosocial Impact of Predictive Genetic Testing in Heredi..:

Bordet, Céline ; Brice, Sandrine ; Maupain, Carole...
Journal of Clinical Medicine.  9 (2020)  5 - p. 1365 , 2020
Link: https://doi.org/10.3390/..
 
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8

Single‐fiber studies for assigning pathogenicity of eight m..:

Zereg, Elamine ; Chaussenot, Annabelle ; Morel, Godelieve...
Human Mutation.  41 (2020)  8 - p. 1394-1406 , 2020
Link: https://doi.org/10.1002/..
 
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9

Single Circulating Fetal Trophoblastic Cells Eligible for N..:

Cayrefourcq, Laure ; Vincent, Marie-Claire ; Pierredon, Sandra...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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10

A novel variant m.8561C>T in the overlapping region of MT-A..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Serre, Valerie...
Molecular Genetics and Metabolism Reports.  21 (2019)  - p. 100543 , 2019
Link: https://doi.org/10.1016/..
 
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11

NDUFS6 related Leigh syndrome: a case report and review of ..:

Rouzier, Cécile ; Chaussenot, Annabelle ; Fragaki, Konstantina...
Journal of Human Genetics.  64 (2019)  7 - p. 637-645 , 2019
Link: https://doi.org/10.1038/..
 
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12

Targeted next generation sequencing with an extended gene p..:

Plutino, Morgane ; Chaussenot, Annabelle ; Rouzier, Cécile...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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13

A novel CISD2 mutation associated with a classical Wolfram ..:

Rouzier, Cécile ; Moore, David ; Delorme, Cécile...
Human Molecular Genetics.  26 (2017)  9 - p. 1599-1611 , 2017
Link: https://doi.org/10.1093/..
 
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14

Assembly defects of multiple respiratory chain complexes in..:

Fragaki, Konstantina ; Chaussenot, Annabelle ; Boutron, Audrey...
Molecular Genetics and Metabolism.  121 (2017)  3 - p. 224-226 , 2017
Link: https://doi.org/10.1016/..
 
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15

A novel CISD2 mutation associated with a classical Wolfram ..:

Rouzier, Cécile ; Moore, David ; Delorme, Cécile...
Human Molecular Genetics.  26 (2017)  9 - p. 1786-1786 , 2017
Link: https://doi.org/10.1093/..
 
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