Search Results - "N’Guyen, Karine"

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment by du Montcel, Sophie Tezenas, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Le Bayon, Alice, Labauge, Pierre, Guyant-Maréchal, Lucie, Forlani, Sylvie, Jauffret, Celine, Vandenberghe, Nadia, N'Guyen, Karine, Le Ber, Isabelle, Devos, David, Vincitorio, Carlo-Maria, Manto, Mario-Ubaldo, Tison, François, Hannequin, Didier, Ruberg, Merle, Brice, Alexis, Durr, Alexandra

“…Reliable and easy to perform functional scales are a prerequisite for future therapeutic trials in cerebellar ataxias. In order to assess the specificity of…”
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Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice by Renaud, Mathilde, Perriard, Julien, Coudray, Sarah, Sévin-Allouet, Mathieu, Marcel, Christophe, Meissner, Wassilios G., Chanson, Jean-Baptiste, Collongues, Nicolas, Philippi, Nathalie, Gebus, Odile, Quenardelle, Véronique, Castrioto, Anna, Krack, Paul, N’Guyen, Karine, Lefebvre, François, Echaniz-Laguna, Andoni, Azulay, Jean-Philippe, Meyer, Nicolas, Labauge, Pierre, Tranchant, Christine, Anheim, Mathieu

“…Fragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1 premutation. The features include ataxia, action tremor and middle cerebellar peduncle…”
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Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? 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, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement by BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G

“…Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and…”
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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias by Chan, Ellis, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Marelli, Cecilia, Vincitorio, Carlo-Maria, Bayon, Alice Le, Guyant-Maréchal, Lucie, Vandenberghe, Nadia, Anheim, Mathieu, Devos, David, Freeman, Leorah, Ber, Isabelle Le, N'Guyen, Karine, Tchikviladzé, Maya, Labauge, Pierre, Hannequin, Didier, Brice, Alexis, Durr, Alexandra, du Montcel, Sophie Tezenas

“…Background: Responsive ataxia rating scales are essential for determining outcome measures in clinical trials. Methods: We evaluated the responsiveness over…”
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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease by Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre

“…Fabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase…”
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Ejection Fraction Basal Strain Ratio: A New Composite Echocardiographic Deformation Parameter Allowing Differentiation of Cardiac Amyloidosis From Hypertrophic Cardiomyopathies by Martel, Hélène, Rique, Arnaud, Piazzai, Chiara, Mancini, Julien, Dumonceau, Robinson Gravier, Arregle, Florent, Dernys, Alexandra, Gardenat, Alienor, Casalta, Anne-Claire, Renard, Sébastien, Hubert, Sandrine, N’Guyen, Karine, Habib, Gilbert

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Left atrial dysfunction as marker of poor outcome in patients with hypertrophic cardiomyopathy by Essayagh, Benjamin, Resseguier, Noémie, Michel, Nicolas, Casalta, Anne-Claire, Renard, Sébastien, Donghi, Valeria, Carbone, Andreina, Piazzai, Chiara, Ambrosi, Pierre, Levy, Franck, Martel, Hélène, Gérard, Hilla, Avierinos, Jean-François, N’Guyen, Karine, Habib, Gilbert

“…The incremental prognostic value of left atrial (LA) dysfunction, emerging in various clinical contexts, remains poorly explored in hypertrophic cardiomyopathy…”
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SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse by Jaouadi, Hager, Théron, Alexis, Hourdain, Jérôme, Martel, Hélène, Nguyen, Karine, Habachi, Raja, Deharo, Jean-Claude, Collart, Frédéric, Avierinos, Jean-François, Zaffran, Stéphane

“…Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of…”
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues by Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn

“…X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected…”
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center by Morel, Victor, Audic, Frédérique, Tardy, Charlotte, Verschueren, Annie, Attarian, Shahram, Nguyen, Karine, Salort-Campana, Emmanuelle, Krahn, Martin, Chabrol, Brigitte, Gorokhova, Svetlana

“…Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich's congenital muscular dystrophy…”
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Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy by Faignart, Nicole, Nguyen, Karine, Soroken, Cindy, Poloni, Claudia, Downs, Heather M., Laubscher, Bernard, Korff, Christian, Oaklander, Anne Louise, Roulet Perez, Eliane

“…The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves…”
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells by Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique

“…Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling…”
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Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis by Jaouadi, Hager, Morel, Victor, Martel, Helene, Lindenbaum, Pierre, de la Chapelle, Lorcan Lamy, Herbane, Marine, Lucas, Claire, Magdinier, Frédérique, Gilbert, Habib, Schott, Jean-Jacques, Zaffran, Stéphane, Nguyen, Karine

“…Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants…”
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