Hasil Pencarian - Magalie Barth

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  1. 1
    A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in

    A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in oleh Geoffrey Urbanski, Soumeya Bekri, Magalie Barth, Christophe Verny, Christian Lavigne

    Diterbitkan 2014-07-01
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  2. 2
    An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy

    An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy oleh Caroline Sevin, Magalie Barth, Alexandra Wilds, Abena Afriyie, Markus Walz, Annamarie Dillon, Kenneth Howie, Francis Pang

    Diterbitkan 2022-09-01
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  3. 3
    Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma

    Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma oleh Jeremy Richard, Céline Beauvillain, Maxime Benoit, Maxime Benoit, Magalie Barth, Magalie Barth, Cécile Aubert, Cécile Aubert, Cyrielle Rolley, Cyrielle Rolley, Sarah Bellal, Sarah Bellal, Jennifer Bourreau, Matthieu Ferragu, Souhil Lebdai, Arnaud Chevrollier, Daniel Henrion, Vincent Procaccio, Pierre Bigot, Pierre Bigot

    Diterbitkan 2024-05-01
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  4. 4
    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients oleh Sophie Denamur, Guy Touati, Stéphane Debelleix, Léna Damaj, Magalie Barth, Marine Tardieu, Magali Gorce, Pierre Broué, Didier Lacombe, François Labarthe

    Diterbitkan 2021-02-01
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  5. 5
    Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

    Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I oleh Audrey Pontrucher, Magalie Barth, Alban Ziegler, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan

    Diterbitkan 2023-11-01
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  6. 6
    Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

    Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review oleh Elise Riquin, Elise Riquin, Elise Riquin, Philippe Duverger, Philippe Duverger, Cindy Cariou, Magalie Barth, Clément Prouteau, Patrick Van Bogaert, Dominique Bonneau, Dominique Bonneau, Arnaud Roy, Arnaud Roy

    Diterbitkan 2020-07-01
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  7. 7
    Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders

    Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders oleh Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E. Schwartz, Surender Rajasekaran, André S. Bachmann, Magalie Barth, Clément Prouteau, Yotam Almagor, Lina Berkun, Gheona Alterescu, Caleb P. Bupp

    Diterbitkan 2023-04-01
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  8. 8
    West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

    West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature oleh Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve, Manuel Schiff, Hélène Maurey, Marie-Anne Barthez, Isabelle Caubel, Mondher Chouchane, Diane Doummar, Manoëlle Kossorotoff, Marie-Dominique Lamblin, Agathe Roubertie, Rima Nabbout, Patrick Van Bogaert, Patrick Van Bogaert

    Diterbitkan 2021-03-01
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  9. 9
    Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

    Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series oleh Elise Riquin, Elise Riquin, Elise Riquin, Magalie Barth, Thomas Le Nerzé, Natwin Pasquini, Clement Prouteau, Estelle Colin, Estelle Colin, Patrizia Amati Bonneau, Vincent Procaccio, Patrick Van Bogaert, Philippe Duverger, Philippe Duverger, Dominique Bonneau, Dominique Bonneau, Arnaud Roy, Arnaud Roy

    Diterbitkan 2022-04-01
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  10. 10
    Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

    Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series oleh Elise Riquin, Elise Riquin, Elise Riquin, Thomas Le Nerzé, Natwin Pasquini, Magalie Barth, Clément Prouteau, Estelle Colin, Estelle Colin, Patrizia Amati Bonneau, Vincent Procaccio, Patrick Van Bogaert, Philippe Duverger, Philippe Duverger, Dominique Bonneau, Dominique Bonneau, Arnaud Roy, Arnaud Roy

    Diterbitkan 2021-07-01
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  11. 11
    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases

    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases oleh Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo

    Diterbitkan 2024-06-01
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  12. 12
    Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

    Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure oleh Sophie Belal, David Goudenège, Cinzia Bocca, Florent Dumont, Juan Manuel Chao De La Barca, Valérie Desquiret-Dumas, Naïg Gueguen, Guillaume Geffroy, Rayane Benyahia, Selma Kane, Salim Khiati, Céline Bris, Tamas Aranyi, Daniel Stockholm, Aurore Inisan, Aurélie Renaud, Magalie Barth, Gilles Simard, Pascal Reynier, Franck Letournel, Guy Lenaers, Dominique Bonneau, Arnaud Chevrollier, Vincent Procaccio

    Diterbitkan 2022-07-01
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  13. 13
    Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

    Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease oleh Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig

    Diterbitkan 2022-04-01
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  14. 14
    Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

    Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study oleh Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour

    Diterbitkan 2020-01-01
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  15. 15
    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders oleh Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

    Diterbitkan 2023-01-01
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  16. 16
    Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

    Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish oleh Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia

    Diterbitkan 2022-11-01
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  17. 17
    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease oleh Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

    Diterbitkan 2023-02-01
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  18. 18
    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency oleh Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

    Diterbitkan 2022-10-01
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