Výsledky vyhledávání - Tanya Stojkovic

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  1. 1
    ColVI myopathies: where do we stand, where do we go?

    ColVI myopathies: where do we stand, where do we go? Autor Valérie Allamand, Laura Briñas, Pascale Richard, Tanya Stojkovic, Susana Quijano‐Roy, Gisèle Bonne

    Vydáno 2011
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    Artigo
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  2. 2
    Correlation between <i>PABPN1</i> genotype and disease severity in oculopharyngeal muscular dystrophy

    Correlation between <i>PABPN1</i> genotype and disease severity in oculopharyngeal muscular dystrophy Autor Pascale Richard, Capucine Trollet, Tanya Stojkovic, Alix de Becdelièvre, Sophie Périé, Jean Pouget, B. Eymard

    Vydáno 2016
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  3. 3
    Permanent muscle weakness in M<scp>C</scp>Ardle disease

    Permanent muscle weakness in M<scp>C</scp>Ardle disease Autor Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

    Vydáno 2009
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  4. 4
    Neurologic Manifestations in Primary Sjögren Syndrome

    Neurologic Manifestations in Primary Sjögren Syndrome Autor S. Delalande, de Sèze, A.L. Fauchais, É. Hachulla, Tanya Stojkovic, D. Ferriby, Sylvain Dubucquoi, Jean‐Pierre Pruvo, Patrick Vermersch, Pierre‐Yves Hatron

    Vydáno 2004
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  5. 5
    Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

    Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency Autor Tanya Stojkovic, John Vissing, François Petit, Monique Piraud, Mette Cathrine Ørngreen, Grete Andersen, Kristl G. Claeys, Claire Wary, Jean‐Yves Hogrel, Pascal Laforêt

    Vydáno 2009
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  6. 6
    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age Autor M. Bisciglia, Gianmarco Severa, Norma B. Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, B. Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin

    Vydáno 2025
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  7. 7
    Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

    Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations Autor I. Wargon, Pascale Richard, Thierry Küntzer, Damien Sternberg, Shahriar Nafissi, Karen Gaudon, Adeline Lebail, Stéphanie Bauché, Daniel Hantaı̈, Emmanuel Fournier, B. Eymard, Tanya Stojkovic

    Vydáno 2011
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  8. 8
    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study Autor Karim Wahbi, Anthony Béhin, Philippe Charron, Murielle Dunand, Pascale Richard, Christophe Meune, Patrick Vicart, Pascal Laforêt, Tanya Stojkovic, Henri Marc Bécane, Thierry Küntzer, Denis Duboc

    Vydáno 2011
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  9. 9
    Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

    Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases Autor Karim Wahbi, Wulfran Bougouin, Anthony Béhin, Tanya Stojkovic, Henri Marc Bécane, Claude Jardel, Nawal Berber, Fanny Mochel, Anne Lombès, B. Eymard, Denis Duboc, Pascal Laforêt

    Vydáno 2015
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  10. 10
    Long-term observational study of sporadic inclusion body myositis

    Long-term observational study of sporadic inclusion body myositis Autor Olivier Benvéniste, Marguerite Guiguet, John Freebody, O. Dubourg, Waney Squier, Thierry Maisonobe, Tanya Stojkovic, Maria Isabel Leite, Yves Allenbach, S. Herson, Stefen Brady, B. Eymard, David Hilton‐Jones

    Vydáno 2011
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  11. 11
    Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a<i>LMNA</i>R482W Mutation Show Muscular and Cardiac Abnormalities

    Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a<i>LMNA</i>R482W Mutation Show Muscular and Cardiac Abnormalities Autor Marie‐Christine Vantyghem, P. Pigny, C. A. Maurage, Nathalie Rouaix‐Emery, Tanya Stojkovic, Jean‐Marie Cuisset, A Millaire, Olivier Lascols, Patrick Vermersch, Jean-Louis Wémeau, Jacqueline Capeau, Corinne Vigouroux

    Vydáno 2004
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  12. 12
    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network Autor Guilhem Solé, Emmanuelle Salort‐Campana, Yann Péréon, Tanya Stojkovic, Karim Wahbi, Pascal Cintas, David H. Adams, Pascal Laforêt, V. Tiffreau, Isabelle Desguerre, Lucie I. Pisella, Annamaria Molon, Shahram Attarian

    Vydáno 2020
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  13. 13
    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Autor Claudio Semplicini, John Vissing, Julia R. Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Dunø, France Leturcq, Cinzia Bertolin, Paola D’Ambrosio, B. Eymard, C. Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro

    Vydáno 2015
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  14. 14
    Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

    Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders Autor Abdallah Fayssoil, Anthony Béhin, Adam Ogna, D. Mompoint, Helge Amthor, Bernard Clair, Pascal Laforêt, Arnaud Mansart, Hélène Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, B. Eymard, Frédéric Lofaso, Djillali Annane

    Vydáno 2017
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    Revisão
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  15. 15
    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1 Autor Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Véronique Fressart, Chérif Beldjord, Kamel Azibi, Arnaud Lazarus, Nawal Berber, Hélène Radvanyi-Hoffman, Tanya Stojkovic, Anthony Béhin, Pascal Laforêt, B. Eymard, Stéphane N. Hatem, Denis Duboc

    Vydáno 2013
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  16. 16
    Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

    Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and... Autor Abdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, Sylvie Chevret, Raquel Guimarães‐Costa, France Leturcq, Karim Wahbi, Hélène Prigent, Frédéric Lofaso, Olivier Nardi, Bernard Clair, Anthony Béhin, Tanya Stojkovic, Pascal Laforêt, David Orlikowski, Djillali Annane

    Vydáno 2016
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  17. 17
    Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1

    Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1 Autor C. Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Hélène Radvanyi-Hoffman, Pauline Arnaud, Denis Furling, Arnaud Lazarus, Guillaume Bassez, Anthony Béhin, Abdallah Fayssoil, Pascal Laforêt, Tanya Stojkovic, B. Eymard, Denis Duboc

    Vydáno 2017
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  18. 18
    Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

    Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Autor Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, B. Chabrol, Emmanuelle Salort‐Campana, Émilien Delmont, Jean-Pierre Desvignes, Annie Verschueren, Shahram Attarian, Annabelle Chaussenot, Valérie Delague, Nicolas Lévy, Nathalie Bonello‐Palot

    Vydáno 2018
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  19. 19
    Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

    Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches Autor Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael G. Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro Machado, Thomas Voit, Ana Buj‐Bello, Julie Dumonceaux

    Vydáno 2017
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  20. 20
    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

    <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia Autor Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández‐Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets

    Vydáno 2022
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