Canlyniadau Chwilio - Matilde Laurá

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  1. 1
    Charcot‐Marie‐Tooth disease

    Charcot‐Marie‐Tooth disease gan Mary M. Reilly, Sinéad M. Murphy, Matilde Laurá

    Cyhoeddwyd 2011
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  2. 2
    Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

    Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis gan Mahima Kapoor, Alexander M. Rossor, Matilde Laurá, Mary M. Reilly

    Cyhoeddwyd 2019
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  3. 3
    Charcot–Marie–Tooth disease and related disorders: an evolving landscape

    Charcot–Marie–Tooth disease and related disorders: an evolving landscape gan Matilde Laurá, Menelaos Pipis, Alexander M. Rossor, Mary M. Reilly

    Cyhoeddwyd 2019
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  4. 4
    A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder

    A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder gan Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga, Matilde Laurá, Julian Blake, Henry Houlden, Mary M. Reilly

    Cyhoeddwyd 2017
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  5. 5
    Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

    Plasma neurofilament light chain concentration in the inherited peripheral neuropathies gan Åsa Sandelius, Henrik Zetterberg, Kaj Blennow, Rocco Adiutori, Andrea Malaspina, Matilde Laurá, Mary M. Reilly, Alexander M. Rossor

    Cyhoeddwyd 2018
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  6. 6
    Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type <scp>1A</scp>

    Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type <scp>1A</scp> gan Pedro José Tomaselli, Julian Blake, James M. Polke, Osvaldo J. M. Nascimento, Mary M. Reilly, Wilson Marques, Matilde Laurá

    Cyhoeddwyd 2024
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  7. 7
    <i>MFN2</i> mutations cause severe phenotypes in most patients with CMT2A

    <i>MFN2</i> mutations cause severe phenotypes in most patients with CMT2A gan Shawna Feely, Matilde Laurá, Carly E. Siskind, Stephanie L. Sottile, Mary B. Davis, V.S. Gibbons, Mary M. Reilly, Michael E. Shy

    Cyhoeddwyd 2011
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  8. 8
    Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in <i>SPTLC2</i>

    Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in <i>SPTLC2</i> gan Sinéad M. Murphy, Daniela Ernst, Wei Yu, Matilde Laurá, Yo-Tsen Liu, James M. Polke, Julian Blake, J. Winer, Henry Houlden, Thorsten Hornemann, Mary M. Reilly

    Cyhoeddwyd 2013
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  9. 9
    Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

    Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation gan Y.-T. Liu, Joshua Hersheson, Vincent Plagnol, Katherine A. Fawcett, Kate Duberley, Elisavet Preza, Iain P. Hargreaves, Annapurna Chalasani, Matilde Laurá, Nicholas Wood, Mary M. Reilly, Henry Houlden

    Cyhoeddwyd 2013
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  10. 10
    Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (<scp>CMTNSv2</scp>) second version, using Rasch analysis

    Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (<scp>CMTNSv2</scp>) second version, using Rasch analysis gan Reza Sadjadi, Mary M. Reilly, Michael E. Shy, Davide Pareyson, Matilde Laurá, Sinéad M. Murphy, Shawna Feely, Tiffany Grider, Chelsea Bacon, Giuseppe Piscosquito, Daniela Calabrese, Ted M. Burns

    Cyhoeddwyd 2014
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  11. 11
    Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

    Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability gan Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie Pallant, Monkol Lek, Francesco Muntoni, Mary M. Reilly, Davide Pareyson, Gyula Acsádi, Michael E. Shy, Richard S. Finkel

    Cyhoeddwyd 2012
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  12. 12
    Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

    Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids gan Anke Penno, Mary M. Reilly, Henry Houlden, Matilde Laurá, Katharina Rentsch, Vera Niederkofler, Esther T. Stoeckli, Garth A. Nicholson, Florian Eichler, Robert H. Brown, Arnold von Eckardstein, Thorsten Hornemann

    Cyhoeddwyd 2010
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  13. 13
    Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

    Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease gan Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laurá, Pedro José Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly

    Cyhoeddwyd 2019
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  14. 14
    Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

    Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT gan Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laurá, Julian Blake, Roy Poh, James M. Polke, Henry Houlden, Mary M. Reilly

    Cyhoeddwyd 2017
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  15. 15
    Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

    Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease gan Christopher J. Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M. Polke, Kelly Eggleton, Tina Nanji, Stephan Züchner, Andrea Cortese, Henry Houlden, Alexander M. Rossor, Matilde Laurá, Mary M. Reilly

    Cyhoeddwyd 2024
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  16. 16
    Nerve conduction velocity in <scp>CMT</scp>1A: what else can we tell?

    Nerve conduction velocity in <scp>CMT</scp>1A: what else can we tell? gan Fiore Manganelli, Chiara Pisciotta, Mary M. Reilly, Stefano Tozza, Angelo Schenone, Gian Maria Fabrizi, Tiziana Cavallaro, Giuseppe Vita, Luca Padua, Franco Gemignani, Matilde Laurá, R. A. C. Hughes, Alessandra Solari, Davide Pareyson, Lucio Santoro

    Cyhoeddwyd 2016
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  17. 17
    Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

    Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial gan Davide Pareyson, Mary M. Reilly, Angelo Schenone, Gian Maria Fabrizi, Tiziana Cavallaro, Lucio Santoro, Giuseppe Vita, Aldo Quattrone, Luca Padua, Franco Gemignani, Francesco Visioli, Matilde Laurá, D. Radice, Daniela Calabrese, Richard AC Hughes, Alessandra Solari

    Cyhoeddwyd 2011
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  18. 18
    Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

    Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations gan James M. Polke, Matilde Laurá, Davide Pareyson, Franco Taroni, M Milani, Giorgia Bergamin, V.S. Gibbons, Henry Houlden, S.C. Chamley, J. Blake, Catherine DeVile, Richard Sandford, Mary G. Sweeney, Mary B. Davis, Mary M. Reilly

    Cyhoeddwyd 2011
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  19. 19
    Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity

    Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity gan Amanda Wallace, A. Pietrusz, E Dewar, Magdalena Dudziec, Katherine Jones, P. J. Hennis, Annette Sterr, Gianluca Baio, Pedro Machado, Matilde Laurá, Iwona Skorupinska, Mariola Skorupinska, Karen Butcher, Michael I. Trenell, Mary M. Reilly, Michael G. Hanna, Gita Ramdharry

    Cyhoeddwyd 2019
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  20. 20
    Extended phenotypic spectrum of <i>KIF5A</i> mutations

    Extended phenotypic spectrum of <i>KIF5A</i> mutations gan Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden

    Cyhoeddwyd 2014
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