Torthaí cuardaigh - Anna Potulska‐Chromik

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  1. 1
    A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

    A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure de réir Jakub Fichna, Anna Potulska‐Chromik, Przemysław Miszta, Maria Jolanta Rędowicz, Anna Kamińska, Cezary Żekanowski, Sławomir Filipek

    Foilsithe / Cruthaithe 2016
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  2. 2
    Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

    Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients de réir Jakub Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska‐Chromik, Maria Jolanta Rędowicz, Cezary Żekanowski

    Foilsithe / Cruthaithe 2018
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  3. 3
    Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

    Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience de réir Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska‐Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera‐Pruszczyk

    Foilsithe / Cruthaithe 2023
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  4. 4
    Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

    Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease de réir Dorota Hoffman‐Zacharska, Dariusz Koziorowski, Owen A. Ross, Michał Milewski, Jarosław Poznański, Marta Jurek, Zbigniew K. Wszołek, Alexandra I. Soto‐Ortolaza, Jarosław Sławek, Piotr Janik, Zygmunt Jamrozik, Anna Potulska‐Chromik, Barbara Jasińska‐Myga, Grzegorz Opala, Anna Krygowska‐Wajs, K Czyźewski, Dennis W. Dickson, Jerzy Bal, Andrzej Friedman

    Foilsithe / Cruthaithe 2013
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  5. 5
    Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

    Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy de réir Annemieke Aartsma‐Rus, Madhuri Hegde, Tawfeg Ben‐Omran, Filippo Buccella, Alessandra Ferlini, P. Gallano, R. Rodney Howell, France Leturcq, Ann Martin, Anna Potulska‐Chromik, Jonas Alex Morales Saute, Wolfgang M. Schmidt, Thomas Sejersen, Sylvie Tuffery‐Giraud, Zehra Oya Uyguner, Luci A. Witcomb, Shu Yau, Stanley F. Nelson

    Foilsithe / Cruthaithe 2018
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    Revisão
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  6. 6
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... de réir Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    Foilsithe / Cruthaithe 2018
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