Found: 27

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  • A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

    Published in:
    Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
    By:
    • Biancalana, Valérie;
    • Rendu, John;
    • Chaussenot, Annabelle;
    • Mecili, Helen;
    • Bieth, Eric;
    • Fradin, Mélanie;
    • Mercier, Sandra;
    • Michaud, Maud;
    • Nougues, Marie-Christine;
    • Pasquier, Laurent;
    • Sacconi, Sabrina;
    • Romero, Norma B.;
    • Marcorelles, Pascale;
    • Authier, François Jérôme;
    • Gelot Bernabe, Antoinette;
    • Uro-Coste, Emmanuelle;
    • Cances, Claude;
    • Isidor, Bertrand;
    • Magot, Armelle;
    • Minot-Myhie, Marie-Christine
    Publication type:
    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

  • Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

    Published in:
    BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0568-y
    By:
    • Plutino, Morgane;
    • Chaussenot, Annabelle;
    • Rouzier, Cécile;
    • Ait-El-Mkadem, Samira;
    • Fragaki, Konstantina;
    • Paquis-Flucklinger, Véronique;
    • Bannwarth, Sylvie
    Publication type:
    Article

  • Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

    Published in:
    2017
    By:
    • Fragaki, Konstantina;
    • Chaussenot, Annabelle;
    • Boutron, Audrey;
    • Bannwarth, Sylvie;
    • Cochaud, Charlotte;
    • Richelme, Christian;
    • Sacconi, Sabrina;
    • Paquis‐Flucklinger, Veronique;
    • Paquis-Flucklinger, Veronique
    Publication type:
    Case Study

  • Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
    By:
    • Rouzier, Cécile;
    • Chaussenot, Annabelle;
    • Serre, Valérie;
    • Fragaki, Konstantina;
    • Bannwarth, Sylvie;
    • Ait-El-Mkadem, Samira;
    • Attarian, Shahram;
    • Kaphan, Elsa;
    • Cano, Aline;
    • Delmont, Emilien;
    • Sacconi, Sabrina;
    • de Camaret, Bénédicte Mousson;
    • Rio, Marlène;
    • Lebre, Anne-Sophie;
    • Jardel, Claude;
    • Deschamps, Romain;
    • Richelme, Christian;
    • Pouget, Jean;
    • Chabrol, Brigitte;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 5, p. 528, doi. 10.1038/ejhg.2012.202
    By:
    • Fragaki, Konstantina;
    • Ait-El-Mkadem, Samira;
    • Chaussenot, Annabelle;
    • Gire, Catherine;
    • Mengual, Raymond;
    • Bonesso, Laurent;
    • Bénéteau, Marie;
    • Ricci, Jean-Ehrland;
    • Desquiret-Dumas, Valérie;
    • Procaccio, Vincent;
    • Rötig, Agnès;
    • Paquis-Flucklinger, Véronique
    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

  • Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e220, doi. 10.1093/brain/aws052
    By:
    • Rouzier, Cécile;
    • Bannwarth, Sylvie;
    • Chaussenot, Annabelle;
    • Chevrollier, Arnaud;
    • Verschueren, Annie;
    • Bonello-Palot, Nathalie;
    • Fragaki, Konstantina;
    • Cano, Aline;
    • Pouget, Jean;
    • Pellissier, Jean-François;
    • Procaccio, Vincent;
    • Chabrol, Brigitte;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • Reply: MFN2, a new gene responsible for mitochondrial DNA depletion.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e224, doi. 10.1093/brain/aws112
    By:
    • Rouzier, Cécile;
    • Serre, Valérie;
    • Chaussenot, Annabelle;
    • Bannwarth, Sylvie;
    • Chevrollier, Arnaud;
    • Verschueren, Annie;
    • Bonello-Palot, Nathalie;
    • Fragaki, Konstantina;
    • Cano, Aline;
    • Pouget, Jean;
    • Pellissier, Jean-François;
    • Procaccio, Vincent;
    • Munnich, Arnold;
    • Chabrol, Brigitte;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 23, doi. 10.1093/brain/awr323
    By:
    • Rouzier, Cécile;
    • Bannwarth, Sylvie;
    • Chaussenot, Annabelle;
    • Chevrollier, Arnaud;
    • Verschueren, Annie;
    • Bonello-Palot, Nathalie;
    • Fragaki, Konstantina;
    • Cano, Aline;
    • Pouget, Jean;
    • Pellissier, Jean-François;
    • Procaccio, Vincent;
    • Chabrol, Brigitte;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • Primary mitochondrial disorders and mimics: Insights from a large French cohort.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
    By:
    • Rouzier, Cécile;
    • Pion, Emmanuelle;
    • Chaussenot, Annabelle;
    • Bris, Céline;
    • Ait‐El‐Mkadem Saadi, Samira;
    • Desquiret‐Dumas, Valérie;
    • Gueguen, Naïg;
    • Fragaki, Konstantina;
    • Amati‐Bonneau, Patrizia;
    • Barcia, Giulia;
    • Gaignard, Pauline;
    • Steffann, Julie;
    • Pennisi, Alessandra;
    • Bonnefont, Jean‐Paul;
    • Lebigot, Elise;
    • Bannwarth, Sylvie;
    • Francou, Bruno;
    • Rucheton, Benoit;
    • Sternberg, Damien;
    • Martin‐Negrier, Marie‐Laure
    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

  • Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

    Published in:
    Annals of Neurology, 2011, v. 69, n. 3, p. 501, doi. 10.1002/ana.22160
    By:
    • Chaussenot, Annabelle;
    • Bannwarth, Sylvie;
    • Rouzier, Cecile;
    • Vialettes, Bernard;
    • Mkadem, Samira Ait El;
    • Chabrol, Brigitte;
    • Cano, Aline;
    • Labauge, Pierre;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 5, p. 1927, doi. 10.1007/s00415-020-10348-x
    By:
    • Ravel, Jean-Marie;
    • Benkirane, Mehdi;
    • Calmels, Nadège;
    • Marelli, Cecilia;
    • Ory-Magne, Fabienne;
    • Ewenczyk, Claire;
    • Halleb, Yosra;
    • Tison, François;
    • Lecocq, Claire;
    • Pische, Guillaume;
    • Casenave, Philippe;
    • Chaussenot, Annabelle;
    • Frismand, Solène;
    • Tyvaert, Louise;
    • Larrieu, Lise;
    • Pointaux, Morgane;
    • Drouot, Nathalie;
    • Bossenmeyer-Pourié, Carine;
    • Oussalah, Abderrahim;
    • Guéant, Jean-Louis
    Publication type:
    Article

  • Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 8, p. 2043, doi. 10.1007/s00415-019-09377-y
    By:
    • Mandia, Daniele;
    • Chaussenot, Annabelle;
    • Besson, Gérard;
    • Lamari, Foudil;
    • Castelnovo, Giovanni;
    • Curot, Jonathan;
    • Duval, Fanny;
    • Giral, Philippe;
    • Lecerf, Jean-Michel;
    • Roland, Dominique;
    • Pierdet, Heloise;
    • Douillard, Claire;
    • Nadjar, Yann
    Publication type:
    Article

  • Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66923-9
    By:
    • Cayrefourcq, Laure;
    • Vincent, Marie-Claire;
    • Pierredon, Sandra;
    • Moutou, Céline;
    • Imbert-Bouteille, Marion;
    • Haquet, Emmanuelle;
    • Puechberty, Jacques;
    • Willems, Marjolaine;
    • Liautard-Haag, Cathy;
    • Molinari, Nicolas;
    • Zordan, Cécile;
    • Dorian, Virginie;
    • Rooryck-Thambo, Caroline;
    • Goizet, Cyril;
    • Chaussenot, Annabelle;
    • Rouzier, Cécile;
    • Boureau-Wirth, Amandine;
    • Monteil, Laetitia;
    • Calvas, Patrick;
    • Miry, Claire
    Publication type:
    Article

  • A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca<sup>2+</sup> homeostasis and ER-mitochondria interactions.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 9, p. 1599, doi. 10.1093/hmg/ddx060
    By:
    • Rouzier, Cécile;
    • Moore, David;
    • Delorme, Cécile;
    • Lacas-Gervais, Sandra;
    • Ait-El-Mkadem, Samira;
    • Fragaki, Konstantina;
    • Burté, Florence;
    • Serre, Valérie;
    • Bannwarth, Sylvie;
    • Chaussenot, Annabelle;
    • Catala, Martin;
    • Yu-Wai-Man, Patrick;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article

  • Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

    Published in:
    Human Mutation, 2020, v. 41, n. 8, p. 1394, doi. 10.1002/humu.24037
    By:
    • Zereg, Elamine;
    • Chaussenot, Annabelle;
    • Morel, Godelieve;
    • Bannwarth, Sylvie;
    • Sacconi, Sabrina;
    • Soriani, Marie‐Hélène;
    • Attarian, Shahram;
    • Cano, Aline;
    • Pouget, Jean;
    • Bellance, Rémi;
    • Tranchant, Christine;
    • Lannes, Béatrice;
    • Paula, André Maues;
    • Saadi Ait‐El‐Mkadem, Samira;
    • Chafino, Bernadette;
    • Berthet, Mathieu;
    • Fragaki, Konstantina;
    • Paquis‐Flucklinger, Véronique;
    • Rouzier, Cécile
    Publication type:
    Article

  • A Prospective Study of Patients with Brain MRI Showing Incidental T2 Hyperintensities Addressed as Multiple Sclerosis: a Lot of Work to do Before Treating.

    Published in:
    Neurology & Therapy, 2014, v. 3, n. 2, p. 123, doi. 10.1007/s40120-014-0024-7
    By:
    • Lebrun, Christine;
    • Cohen, Mikael;
    • Chaussenot, Annabelle;
    • Mondot, Lydiane;
    • Chanalet, Stephane
    Publication type:
    Article

  • A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

    Published in:
    Genes, 2023, v. 14, n. 12, p. 2154, doi. 10.3390/genes14122154
    By:
    • Serag, Mounir;
    • Plutino, Morgane;
    • Charles, Perrine;
    • Azulay, Jean-Philippe;
    • Chaussenot, Annabelle;
    • Paquis-Flucklinger, Véronique;
    • Ait-El-Mkadem Saadi, Samira;
    • Rouzier, Cécile
    Publication type:
    Article