תוצאות חיפוש - Marco Savarese

Refine Results
  1. 1
    Increasing Role of Titin Mutations in Neuromuscular Disorders

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

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  2. 2
    The complexity of titin splicing pattern in human adult skeletal muscles

    The complexity of titin splicing pattern in human adult skeletal muscles מאת Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulín, Petri Auvinen, Bjarne Udd, Peter Hackman

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  3. 3
    Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

    Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast מאת Dario Acampora, Daniela Omodei, Giuseppe Petrosino, Arcomaria Garofalo, Marco Savarese, Vincenzo Nigro, Luca Giovanni Di Giovannantonio, Vincenzo Mercadante, Antonio Simeone

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  4. 4
    Myotilin gene duplication causing late‐onset myotilinopathy

    Myotilin gene duplication causing late‐onset myotilinopathy מאת Marco Spinazzi, Marco Savarese, Franck Letournel, Lydia Sagath, Florence Manero, Agnès Guichet, Alexander Hoischen, Corinne Métay, Julien Gouju, Bjarne Udd

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  5. 5
    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples מאת Marco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, Annalaura Torella, Francesca Magri, Filippo M. Santorelli, Giacomo P. Comi, Claudio Bruno, Vincenzo Nigro

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  6. 6
    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway מאת Giuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, Marco Savarese, Margherita Mutarelli, Giancarlo Parenti, Sandro Banfi, Thomas Braulke, Vincenzo Nigro, Andrea Ballabio

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  7. 7
    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene מאת Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  8. 8
    GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex

    GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex מאת Giovanni D’Angelo, Libera Prencipe, Luisa Iodice, Galina V. Beznoussenko, Marco Savarese, Pierfrancesco Marra, Giuseppe Di Tullio, Gianluca Martire, Maria Antonietta De Matteis, Stefano Bonatti

    יצא לאור 2009
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  9. 9
    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F מאת Annalaura Torella, Francesco Mari, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, C. Angelini, Vincenzo Nigro

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  10. 10
    Mutation update for the <i>ACTN2</i> gene

    Mutation update for the <i>ACTN2</i> gene מאת Johanna Ranta‐aho, Montse Olivé, Marie Vandroux, Giorgia Roticiani, Cristina Domínguez‐González, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  11. 11
    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders מאת Giulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, Annalaura Torella, Stefania Aurino, Marco Savarese, Teresa Giugliano, Enrico Bertini, Antonio Terracciano, Mariz Vainzof, Chiara Criscuolo, Luisa Politano, Carlo Casali, Filippo M. Santorelli, Vincenzo Nigro

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  12. 12
    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations מאת Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, António Toscano, C. Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  13. 13
    OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

    OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development מאת Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, David Gómez‐Andrés, Francina Munell, Jessica Camacho, Maria Angeles Sanchez Duran, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Peter Hackman, Marco Savarese, Bjarne Udd

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  14. 14
    Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

    Expanding the importance of HMERF titinopathy: new mutations and clinical aspects מאת Johanna Palmio, Sarah Léonard-Louis, Sabrina Sacconi, Marco Savarese, Sini Penttilä, A. Semmler, Wolfram Kreß, Tahseen Mozaffar, Timothy Y. Y. Lai, Tanya Stojkovic, Andrés Berardo, Ricardo Reisin, Shahram Attarian, Andoni Urtizberea, Ana María Cobo, Lorenzo Maggi, С. В. Курбатов, S. Nikitin, José C. Milisenda, Farzad Fatehi, Monika Raimondi, Fernando Silveira, Peter Hackman, Kristl G. Claeys, Bjarne Udd

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  15. 15
    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations מאת 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

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  16. 16
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions מאת Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    יצא לאור 2025
    קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  17. 17
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients מאת Chiara Fiorillo, Guja Astrea, Marco Savarese, Denise Cassandrini, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Rosanna Trovato, Lucia Ruggiero, Liliana Vercelli, Adele D’Amico, Giorgio Tasca, Marika Pane, Francesco Mari, Luca Bello, Paolo Broda, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Gian Luca Vita, Maria Sframeli, Sara Gibertini, Lucia Morandi, Marina Mora, Lorenzo Maggi, Antonio Petrucci, Roberto Massa, Marina Grandis, Arianna Toscano, Elena Pegoraro, Eugenio Mercuri, Enrico Bertini, Tiziana Mongini, Lucio Santoro, Vincenzo Nigro, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  18. 18
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders מאת 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

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  19. 19
    Genotype–phenotype correlations in recessive titinopathies

    Genotype–phenotype correlations in recessive titinopathies מאת 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

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  20. 20
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes מאת German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    יצא לאור 2024
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:

כלי חיפוש: