Resultados de procura - Norma B Romero

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  1. 1
    Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

    Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants por Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti, Edoardo Malfatti

    Publicado 2019-10-01
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  2. 2
    Cuando el continente LatinoAmericano empezó a involucrarse más activamente en el tema neuromuscular …

    Cuando el continente LatinoAmericano empezó a involucrarse más activamente en el tema neuromuscular … por J. Andoni Urtizberea, MD, Norma B. Romero, MD, PhD, Jorge A. Bevilacqua, MD, PhD

    Publicado 2018-09-01
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  3. 3
    Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

    Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin por Xènia Massana Muñoz, Christine Kretz, Roberto Silva-Rojas, Julien Ochala, Alexia Menuet, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte

    Publicado 2020-09-01
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  4. 4
    Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

    Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy por Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte

    Publicado 2018-09-01
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  5. 5
    Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

    Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in... por Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2021-05-01
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  6. 6
    Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

    Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic v... por Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2021-08-01
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  7. 7
    Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

    Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant por Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2024-10-01
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  8. 8
    Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

    Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene por Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2024-06-01
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  9. 9
    Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

    Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene por Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2024-06-01
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  10. 10
    Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

    Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del... por Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton

    Publicado 2023-12-01
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  11. 11
    rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

    rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy por Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala

    Publicado 2020-10-01
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  12. 12
    A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

    A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency por Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée

    Publicado 2020-05-01
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  13. 13
    Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

    Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the... por Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton

    Publicado 2022-08-01
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  14. 14
    Clinical, histological, and genetic characterization of PYROXD1-related myopathy

    Clinical, histological, and genetic characterization of PYROXD1-related myopathy por Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm

    Publicado 2019-08-01
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  15. 15
    Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

    Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene por Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

    Publicado 2022-08-01
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  16. 16
    Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

    Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant por Ivana Dabaj, Ivana Dabaj, Ivana Dabaj, Robert Y. Carlier, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Susana Quijano-Roy, Dominique P. Germain, Dominique P. Germain

    Publicado 2023-03-01
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  17. 17
    Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

    Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation por Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, Clémence Labasse, Angéline Madelaine, Alexis Canette, Perrine Aubin, Jean-Michel Vallat, Norma B Romero, Marc Bitoun, Vincent Mouly, Isabelle Marty, Bruno Cadot, Laura Picas, Stéphane Vassilopoulos

    Publicado 2023-04-01
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  18. 18
    In vivo RyR1 reduction in muscle triggers a core-like myopathy

    In vivo RyR1 reduction in muscle triggers a core-like myopathy por Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty

    Publicado 2020-11-01
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  19. 19
    An integrated diagnosis strategy for congenital myopathies.

    An integrated diagnosis strategy for congenital myopathies. por Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte

    Publicado 2013-01-01
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  20. 20
    Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

    Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant por Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti

    Publicado 2023-03-01
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