Search Results - "Plutino, Morgane"

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases by Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

“…Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome…”
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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis by Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

“…CHCHD10 ‐related diseases include mitochondrial DNA instability disorder, frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum,…”
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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France by Hureaux, Marguerite, Guterman, Sarah, Hervé, Bérénice, Till, Marianne, Jaillard, Sylvie, Redon, Sylvie, Valduga, Myléne, Coutton, Charles, Missirian, Chantal, Prieur, Fabienne, Simon‐Bouy, Brigitte, Beneteau, Claire, Kuentz, Paul, Rooryck, Caroline, Gruchy, Nicolas, Marle, Nathalie, Plutino, Morgane, Tosca, Lucie, Dupont, Celine, Puechberty, Jacques, Schluth‐Bolard, Caroline, Salomon, Laurent, Sanlaville, Damien, Malan, Valérie, Vialard, François

“…Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the…”
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A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations by Serag, Mounir, Plutino, Morgane, Charles, Perrine, Azulay, Jean-Philippe, Chaussenot, Annabelle, Paquis-Flucklinger, Véronique, Ait-El-Mkadem Saadi, Samira, Rouzier, Cécile

“…Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several…”
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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder by Lévy, Jonathan, Schell, Bérénice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafke, Ravenswaaij‐Arts, Conny M. A., Plutino, Morgane, Karmous‐Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odile, Boudry Labis, Elise, Rama, Mélanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Céline, Verloes, Alain, Tabet, Anne‐Claude

“…Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are…”
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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 by Plutino, Morgane, Chaussenot, Annabelle, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Genin, Emmanuelle C, Rouzier, Cécile, Augé, Gaëlle, Sacconi, Sabrina, Pouget, Jean, Paquis-Flucklinger, Véronique

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CHCHD 10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis by Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

“…CHCHD10‐related diseases include mitochondrial DNA instability disorder, frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum,…”
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