Výsledky vyhledávání - Roope Männikkö

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  1. 1
    Hysteresis in the Voltage Dependence of HCN Channels

    Hysteresis in the Voltage Dependence of HCN Channels Autor Roope Männikkö, Shilpi Pandey, H. Peter Larsson, Fredrik Elinder

    Vydáno 2005
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  2. 2
    Novel <scp>SCN4A</scp> Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

    Novel <scp>SCN4A</scp> Variants Associated With Myalgic Myotonic Disorder or Paramyotonia Autor Vesa Periviita, Roope Männikkö, Manu Jokela, Richa Sud, Michael G. Hanna, Bjarne Udd, Johanna Palmio

    Vydáno 2025
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  3. 3
    Muscle Dysfunction Caused by a K <sub>ATP</sub> Channel Mutation in Neonatal Diabetes Is Neuronal in Origin

    Muscle Dysfunction Caused by a K <sub>ATP</sub> Channel Mutation in Neonatal Diabetes Is Neuronal in Origin Autor Rebecca Clark, James S. McTaggart, Richard Webster, Roope Männikkö, Michaela Iberl, Xiu Li Sim, Patrik Rorsman, Maike D. Glitsch, David Beeson, Frances M. Ashcroft

    Vydáno 2010
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  4. 4
    Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

    Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes Autor Tarig Babiker, Natascia Vedovato, Kashyap Patel, Nicholas J. Thomas, Roisin Finn, Roope Männikkö, Ali Chakera, Sarah E. Flanagan, Maggie Shepherd, Sian Ellard, Frances M. Ashcroft, Andrew T. Hattersley

    Vydáno 2016
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  5. 5
    A recessive Na <sub>v</sub> 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

    A recessive Na <sub>v</sub> 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Autor Karima Habbout, Hugo Poulin, François Rivier, Serena Giuliano, Damien Sternberg, Bertrand Fontaine, B. Eymard, Raúl Juntas Morales, Bernard Échenne, Louise King, Michael G. Hanna, Roope Männikkö, Mohamed Chahine, Sophie Nicole, Saı̈d Bendahhou

    Vydáno 2015
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  6. 6
    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms Autor Marisol Sampedro Castañeda, Edmar Zanoteli, R. Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, André Macedo Serafim Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G. Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews

    Vydáno 2018
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  7. 7
    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country

    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country Autor Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J. Record, Lindsay A. Wilson, Gustavo Maximiano Alves, Natalia Dominik, Stéphanie Efthymiou, Krutik Patel, Jana Vandrovcová, Roope Männikkö, Robert D. S. Pitceathly, Cláudia Ferreira da Rosa Sobreira, Robert McFarland, Robert W. Taylor, Henry Houlden, Michael G. Hanna, Mary M. Reilly, Wilson Marques

    Vydáno 2024
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  8. 8
    Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

    Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study Autor Roope Männikkö, Leonie C.H. Wong, David J. Tester, Michael G. Thor, Richa Sud, Dimitri M. Kullmann, Mary G. Sweeney, Costin Leu, Sanjay M. Sisodiya, David Fitzpatrick, Margaret J. Evans, Iona Jeffrey, Jacob Tfelt‐Hansen, Marta C. Cohen, Peter Fleming, Amie Jaye, Michael A. Simpson, Michael J. Ackerman, Michael G. Hanna, Elijah R. Behr, Emma Matthews

    Vydáno 2018
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  9. 9
    Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

    Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy Autor Irina Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline W Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sárközy, L. D'Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R. Davis, Lucy Feng, Rahul Phadke, Caroline A. Sewry, Jennifer E. Morgan, Nigel G. Laing, Hilary Vallance, Peter C. Ruben, Michael G. Hanna, M. E. Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni

    Vydáno 2015
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  10. 10
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Autor Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    Vydáno 2019
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