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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
Published in:
EMBO Molecular Medicine, 2016, v. 8, n. 1, p. 58, doi. 10.15252/emmm.201505496
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
Publication type:
Article
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Published in:
2022
By:
- Genin, Emmanuelle C;
- Bannwarth, Sylvie;
- Ropert, Baptiste;
- Lespinasse, Françoise;
- Mauri-Crouzet, Alessandra;
- Augé, Gaelle;
- Fragaki, Konstantina;
- Cochaud, Charlotte;
- Donnarumma, Erminia;
- Lacas-Gervais, Sandra;
- Wai, Timothy;
- Paquis-Flucklinger, Véronique
Publication type:
journal article
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Published in:
2016
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Ber, Isabelle Le;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N'Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Letter
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Published in:
2015
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabelle;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N'Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Letter
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Published in:
2015
By:
- Dobson-Stone, Carol;
- Shaw, Alex D.;
- Hallupp, Marianne;
- Bartley, Lauren;
- McCann, Heather;
- Brooks, William S.;
- Loy, Clement T.;
- Schofield, Peter R.;
- Mather, Karen A.;
- Kochan, Nicole A.;
- Sachdev, Perminder S.;
- Halliday, Glenda M.;
- Piguet, Olivier;
- Hodges, John R.;
- Kwok, John B. J.;
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra
Publication type:
commentary
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Published in:
2015
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabel;
- Auge, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N'Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
journal article
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Published in:
2015
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- le Le Ber, Isabel;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Francoise;
- N'Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
journal article
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e310, doi. 10.1093/brain/awu228
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabelle;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N’Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Article
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e312, doi. 10.1093/brain/awu267
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabelle;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N’Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Article
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e314, doi. 10.1093/brain/awu300
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabelle;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N’Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Article
Concise Review: Forkhead Pathway in the Control of Adult Neurogenesis.
Published in:
Stem Cells, 2014, v. 32, n. 6, p. 1398, doi. 10.1002/stem.1673
By:
- Genin, Emmanuelle C.;
- Caron, Nicolas;
- Vandenbosch, Renaud;
- Nguyen, Laurent;
- Malgrange, Brigitte
Publication type:
Article
Proliferation of hippocampal progenitors relies on p27-dependent regulation of Cdk6 kinase activity.
Published in:
Cellular & Molecular Life Sciences, 2018, v. 75, n. 20, p. 3817, doi. 10.1007/s00018-018-2832-x
By:
- Caron, Nicolas;
- Genin, Emmanuelle C.;
- Marlier, Quentin;
- Verteneuil, Sébastien;
- Beukelaers, Pierre;
- Morel, Laurence;
- Hu, Miaofen G.;
- Hinds, Philip W.;
- Nguyen, Laurent;
- Vandenbosch, Renaud;
- Malgrange, Brigitte
Publication type:
Article
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2329, doi. 10.1093/brain/awu138
By:
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra;
- Fragaki, Konstantina;
- Berg-Alonso, Laetitia;
- Kageyama, Yusuke;
- Serre, Valérie;
- Moore, David G.;
- Verschueren, Annie;
- Rouzier, Cécile;
- Le Ber, Isabelle;
- Augé, Gaëlle;
- Cochaud, Charlotte;
- Lespinasse, Françoise;
- N’Guyen, Karine;
- de Septenville, Anne;
- Brice, Alexis;
- Yu-Wai-Man, Patrick
Publication type:
Article
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.
Published in:
2015
By:
- Morel, Godelieve;
- Rouzier, Cécile;
- Chaussenot, Annabelle;
- Ait‐El‐Mkadem, Samira;
- Bannwarth, Sylvie;
- Genin, Emmanuelle C.;
- Augé, Gaëlle;
- Chabrol, Brigitte;
- Pouget, Jean;
- Soriani, Marie Hélène;
- Sacconi, Sabrina;
- Paquis‐Flucklinger, Véronique
Publication type:
commentary
Peroxisomal and mitochondrial status of two murine oligodendrocytic cell lines (158N, 158JP): potential models for the study of peroxisomal disorders associated with dysmyelination processes.
Published in:
Journal of Neurochemistry, 2009, v. 111, n. 1, p. 119, doi. 10.1111/j.1471-4159.2009.06311.x
By:
- Baarine, Mauhamad;
- Ragot, Kevin;
- Genin, Emmanuelle C.;
- El Hajj, Hammam;
- Trompier, Doriane;
- Andreoletti, Pierre;
- Ghandour, M. Said;
- Menetrier, Franck;
- Cherkaoui-Malki, Mustapha;
- Savary, Stephane;
- Lizard, Gerard
Publication type:
Article
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10<sup>S59L/+</sup> mouse.
Published in:
Acta Neuropathologica, 2019, v. 138, n. 1, p. 123, doi. 10.1007/s00401-019-01988-z
By:
- Genin, Emmanuelle C.;
- Bannwarth, Sylvie;
- Fragaki, Konstantina;
- Mauri-Crouzet, Alessandra;
- Lespinasse, Françoise;
- Neveu, Julien;
- Ropert, Baptiste;
- Augé, Gaelle;
- Cochaud, Charlotte;
- Paquis-Flucklinger, Véronique;
- Madji Hounoum, Blandine;
- Ricci, Jean-Ehrland;
- Lacas-Gervais, Sandra;
- Lefebvre-Omar, Cynthia;
- Bigou, Stéphanie;
- Chiot, Aude;
- Boillée, Séverine;
- Lobsiger, Christian S.;
- Bohl, Delphine;
- Mochel, Fanny
Publication type:
Article
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Published in:
Genes, 2023, v. 14, n. 11, p. 1981, doi. 10.3390/genes14111981
By:
- Genin, Emmanuelle C.;
- Abou-Ali, Mélanie;
- Paquis-Flucklinger, Véronique
Publication type:
Article

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