检索结果 - Anna Vihola

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  1. 1
    Increasing Role of Titin Mutations in Neuromuscular Disorders

    Increasing Role of Titin Mutations in Neuromuscular Disorders 由 Marco Savarese, J. Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman

    出版 2016
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  2. 2
    Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

    Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies 由 J. Sarparanta, Gaëlle Blandin, Karine Charton, Anna Vihola, Sylvie Marchand, Astrid Milić, Peter Hackman, Elisabeth Ehler, Isabelle Richard, Bjarne Udd

    出版 2010
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  3. 3
    Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

    Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin 由 Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, J. Sarparanta, de Sèze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd

    出版 2002
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  4. 4
    Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

    Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2 由 Olayinka Raheem, Shodimu-Emmanuel Olufemi, Linda L. Bachinski, Anna Vihola, Mario Sirito, Jeanette Holmlund-Hampf, Hannu Haapasalo, Yiping Li, Bjarne Udd, Ralf Krahe

    出版 2010
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  5. 5
    Zaspopathy in a large classic late-onset distal myopathy family

    Zaspopathy in a large classic late-onset distal myopathy family 由 Robert C. Griggs, Anna Vihola, Peter Hackman, Kati Talvinen, Henna Haravuori, Georgine Faulkner, B. Eymard, Isabelle Richard, Duygu Selcen, Armando Reyes‐Engel, Olli Carpén, Bjarne Udd

    出版 2007
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  6. 6
    Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

    Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2 由 Anna Vihola, Guillaume Bassez, G. Meola, S. Zhang, Hannu Haapasalo, Anders Paetau, E. Mancinelli, Andrée Rouche, Jean‐Yves Hogrel, P. Laforêt, Thierry Maisonobe, J. F. Pellissier, Ralf Krahe, B. Eymard, Bjarne Udd

    出版 2003
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  7. 7
    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations

    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations 由 Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olivé, Ana María Cobo, Anna Vihola, Per Harald Jonson, J. Sarparanta, F. García-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

    出版 2019
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  8. 8
    Titin mutation segregates with hereditary myopathy with early respiratory failure

    Titin mutation segregates with hereditary myopathy with early respiratory failure 由 Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, D J Dick, Rita Horváth, Mauro Santibanez‐Koref, Bjarne Udd, Patrick F. Chinnery

    出版 2012
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  9. 9
    Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

    Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2 由 Anna Vihola, Linda L. Bachinski, Mario Sirito, Shodimu-Emmanuel Olufemi, Shohrae Hajibashi, Keith Baggerly, Olayinka Raheem, Hannu Haapasalo, Tiina Suominen, Jeanette Holmlund-Hampf, Anders Paetau, Rosanna Cardani, G. Meola, Hannu Kalimo, Lars Edström, Ralf Krahe, Bjarne Udd

    出版 2010
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  10. 10
    The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

    The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover 由 Stephan Lange, Fengqing Xiang, Andrey R Yakovenko, Anna Vihola, Peter Hackman, Elena Rostkova, Jakob Kristensen, Birgit Brandmeier, Gereon Franzen, Birgitta Hedberg, Lars Gunnarsson, Simon M. Hughes, Sylvie Marchand, Thomas Sejersen, Isabelle Richard, Lars Edström, Elisabeth Ehler, Bjarne Udd, Mathias Gautel

    出版 2005
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  11. 11
    A new titinopathy

    A new titinopathy 由 Rafael de Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma B. Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, B. Eymard, Isabelle Richard

    出版 2015
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  12. 12
    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy 由 J. Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, H. Luque, Mark Screen, Kristin McDonald Gibson, Jeffrey M. Stajich, I. Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttilä, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael A. Hauser, Nicholas Katsanis, Bjarne Udd

    出版 2012
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  13. 13
    Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

    Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases 由 Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas‐Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaëlle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean‐Ehrland Ricci, Bjarne Udd, Cristòfol Vives-Bauzà, Véronique Paquis‐Flucklinger

    出版 2018
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  14. 14
    Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathy

    Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathy 由 Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L. Davis, Leigh B. Waddell, Simran Kaur, Con Yiannikas, Kathryn N. North, Nigel F. Clarke, Daniel G. MacArthur, Carolyn M. Sue, Bjarne Udd

    出版 2015
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  15. 15
    HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

    HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies 由 B. Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, V. Crippa, Riccardo Cristofani, P. Rusmini, Veronica Ferrari, Elena Casarotto, Marta Chierichetti, Francesco Mina, Paola Pramaggiore, M. Galbiati, Margherita Piccolella, Jonathan Baets, Femke Baeke, Riet De Rycke, Vincent Mouly, Tommaso Laurenzi, Ivano Eberini, Anna Vihola, Bjarne Udd, Lan Weiss, Virginia Kimonis, Vincent Timmerman, Angelo Poletti

    出版 2023
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  16. 16
    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease 由 Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro

    出版 2013
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  17. 17
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations 由 Youjin Lee, Per Harald Jonson, J. Sarparanta, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttilä, Marco Savarese, Mridul Johari, Marie-Christine Minot, David Hilton‐Jones, Paul Maddison, Patrick F. Chinnery, Jens Reimann, Cornelia Kornblum, Torsten Kraya, Stephan Zierz, Carolyn M. Sue, Hans H. Goebel, Asim Azfer, Stuart H. Ralston, Peter Hackman, Robert C. Bucelli, J. Paul Taylor, Conrad C. Weihl, Bjarne Udd

    出版 2018
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  18. 18
    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy 由 Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O’Grady, Beryl B. Cummings, Katherine R. Chao, Ben Weisburd, Laurent C. Francioli, Fathimath Faiz, Adam Bournazos, Ying Hu, Carla Grosmann, Denise Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G. Claeys, Kathryn Urankar, Ana Beleza‐Meireles, Júlia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

    出版 2019
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  19. 19
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 由 Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, H. Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, C. Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo P. Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

    出版 2018
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  20. 20
    Genotype–phenotype correlations in recessive titinopathies

    Genotype–phenotype correlations in recessive titinopathies 由 Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sárközy, Sushan Luo, Jordi Díaz‐Manera, Christoffer Ehrstedt, Ricardo Rojas‐García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, H. Luque, Philippe Petiot, Adolfo López de Munaín, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo M. Santorelli, Claudio Bruno, Thierry Küntzer, Isabel Illa, Juan J. Vílchez, Cédric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar‐Borota, Mark R. Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

    出版 2020
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