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Jardel, Claude
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1

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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2

Homoplasmic deleterious MT-ATP6/8 mutations in adult patien..:

Rucheton, Benoit ; Jardel, Claude ; Filaut, Sandrine...
Mitochondrion.  55 (2020)  - p. 64-77 , 2020
Link: https://doi.org/10.1016/..
 
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3

Clinical phenotype of mitochondrial diabetes due to rare mi..:

Decoux-Poullot, Anne-Gaëlle ; Bannwarth, Sylvie ; Procaccio, Vincent...
Annales d'Endocrinologie.  81 (2020)  2-3 - p. 68-77 , 2020
Link: https://doi.org/10.1016/..
 
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4

Novel Phenotypes and Cardiac Involvement Associated With DN..:

González-del Angel, Ariadna ; Bisciglia, Michela ; Vargas-Cañas, Steven...
Frontiers in Neurology.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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5

eKLIPse: a sensitive tool for the detection and quantificat..:

Goudenège, David ; Bris, Celine ; Hoffmann, Virginie...
Genetics in Medicine.  21 (2019)  6 - p. 1407-1416 , 2019
Link: https://doi.org/10.1038/..
 
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6

Quantitative neuroimaging biomarkers in a series of 20 adul..:

Masingue, Marion ; Adanyeguh, Isaac ; Tchikviladzé, Maya...
Mitochondrion.  45 (2019)  - p. 22-28 , 2019
Link: https://doi.org/10.1016/..
 
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7

Incidence and predictors of total mortality in 267 adults p..:

Papadopoulos, Constantinos ; Wahbi, Karim ; Behin, Anthony...
Journal of Inherited Metabolic Disease.  43 (2019)  3 - p. 459-466 , 2019
Link: https://doi.org/10.1002/..
 
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8

A novel frameshift mutation in DNA2 causes early onset myop..:

del Angel, Ariadna Gonzalez ; Fernandez-Valverde, Francisca ; Rucheton, Benoit..
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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9

Expanding and Underscoring the Hepato‐Encephalopathic Pheno..:

Russell, Bianca E. ; Whaley, Kaitlin G. ; Bove, Kevin E....
Hepatology.  70 (2019)  3 - p. 1066-1070 , 2019
Link: https://doi.org/10.1002/..
 
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10

Multicenter evaluation of neurofilaments in early symptom o..:

Feneberg, Emily ; Oeckl, Patrick ; Steinacker, Petra...
Neurology.  90 (2018)  1 - p. , 2018
Link: https://doi.org/10.1212/..
 
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11

Adult-onset Generalized Dystonia as the Main Manifestation ..:

Giron, Camille ; Roze, Emmanuel ; Degos, Bertrand...
Tremor and Other Hyperkinetic Movements.  8 (2018)  0 - p. 554 , 2018
Link: https://doi.org/10.5334/..
 
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12

Diagnostic des maladies mitochondriales:

Jardel, Claude ; Rucheton, Benoît
Revue Francophone des Laboratoires.  2018 (2018)  501 - p. 36-48 , 2018
Link: https://doi.org/10.1016/..
 
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13

Targeted versus untargeted omics — the CAFSA story:

del Mar Amador, Maria ; Colsch, Benoit ; Lamari, Foudil...
Journal of Inherited Metabolic Disease.  41 (2018)  3 - p. 447-456 , 2018
Link: https://doi.org/10.1007/..
 
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14

Two new cases of mitochondrial myopathy with exercise intol..:

Tosserams, Anouk ; Papadopoulos, Constantinos ; Jardel, Claude...
Mitochondrion.  39 (2018)  - p. 26-29 , 2018
Link: https://doi.org/10.1016/..
 
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15

Genetic diagnosis of Mendelian disorders via RNA sequencing:

Kremer, Laura S. ; Bader, Daniel M. ; Mertes, Christian...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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