Rezultati - Matt Parton

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  1. 1
    A practical approach to diagnosing adult onset leukodystrophies

    A practical approach to diagnosing adult onset leukodystrophies od Rebekah M. Ahmed, Elaine Murphy, Indran Davagnanam, Matt Parton, Jonathan M. Schott, Catherine J. Mummery, Jonathan D. Rohrer, Robin Lachmann, Henry Houlden, Nick C. Fox, Jeremy Chataway

    Izdano 2013
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  2. 2
    The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

    The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies od Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek Yousry

    Izdano 2018
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  3. 3
    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy od Germán Morís, Libby Wood, Roberto Fernández‐Torrón, José Andrés González Coraspe, Chris Turner, David Hilton‐Jones, Fiona Norwood, Tracey Willis, Matt Parton, Mark Rogers, Simon Hammans, Mark Roberts, Elizabeth Househam, Maggie Williams, Hanns Lochmüller, Teresinha Evangelista

    Izdano 2017
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  4. 4
    Clinical features of the myasthenic syndrome arising from mutations in GMPPB

    Clinical features of the myasthenic syndrome arising from mutations in GMPPB od Pedro M. Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, Maryam Sedghi, Maria Elena Farrugia, Janice L. Holton, Weiwei Liu, Susan Maxwell, Richard Petty, Timothy J. Walls, Robin P. Kennett, Matthew Pitt, Anna Sárközy, Matt Parton, Hanns Lochmüller, Francesco Muntoni, Jacqueline Palace, David Beeson

    Izdano 2016
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  5. 5
    Atypical periodic paralysis and myalgia

    Atypical periodic paralysis and myalgia od Emma Matthews, Christoph Neuwirth, Fatima Jaffer, R. Scalco, Doreen Fialho, Matt Parton, Dipa Raja Rayan, Karen Suetterlin, Richa Sud, Roland Spiegel, Rachel Mein, Henry Houlden, Andrew M. Schaefer, Estelle Healy, Jacqueline Palace, Rosaline C. M. Quinlivan, Susan Treves, Janice L. Holton, Heinz Jungbluth, Michael G. Hanna

    Izdano 2018
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  6. 6
    Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

    Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies od Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Weiwei Liu, Susan Maxwell, Simon J. McGowan, Maria Elena Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sárközy, M. Bertoli, Matthew Pitt, Robin P. Kennett, Andrew M. Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson

    Izdano 2015
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  7. 7
    The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

    The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis od Qiang Gang, Conceição Bettencourt, Pedro Machado, Zoë Fox, Stefen Brady, Estelle Healy, Matt Parton, Janice L. Holton, David Hilton‐Jones, Perry B. Shieh, Edmar Zanoteli, Boél De Paepe, Jan De Bleecker, Aziz Shaibani, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Richard J. Barohn, Mazen M. Dimachkie, Marina Mora, Renato Mantegazza, Simona Zanotti, Michael G. Hanna, Henry Houlden

    Izdano 2015
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  8. 8
    Targeting protein homeostasis in sporadic inclusion body myositis

    Targeting protein homeostasis in sporadic inclusion body myositis od Mhoriam Ahmed, Pedro Machado, Adrian Miller, Charlotte Spicer, Laura Herbelin, Jianghua He, Janelle Noel, Yunxia Wang, April McVey, Mamatha Pasnoor, Philip M. Gallagher, Jeffrey Statland, Ching‐Hua Lu, Bernadett Kalmár, Stefen Brady, Huma Sethi, George Samandouras, Matt Parton, Janice L. Holton, Anne Weston, Lucy Collinson, J. Paul Taylor, Giampietro Schiavo, Michael G. Hanna, Richard J. Barohn, Mazen M. Dimachkie, Linda Greensmith

    Izdano 2016
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  9. 9
    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies od R. Scalco, A. Gardiner, Robert D. S. Pitceathly, David Hilton‐Jones, Anthony H.V. Schapira, Chris Turner, Matt Parton, M. Desikan, Rita Barresi, Julie Marsh, Adnan Y. Manzur, Anne‐Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J. Lamont, Gianina Ravenscroft, William Wallefeld, Mark R. Davis, Nigel G. Laing, Janice L. Holton, Doreen Fialho, Kate Bushby, Michael G. Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Rosaline C. M. Quinlivan

    Izdano 2016
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  10. 10
    Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis

    Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis od James B Lilleker, Anke Rietveld, Stephen R. Pye, K. Mariampillai, Olivier Benvéniste, Maikel Peeters, James Miller, Michael G. Hanna, Pedro Machado, Matt Parton, Karina Gheorghe, Umesh A. Badrising, Ingrid E. Lundberg, Sabrina Sacconi, Megan K. Herbert, Neil McHugh, Bryan Lecky, Charlotte Brierley, David Hilton‐Jones, Janine A. Lamb, Marc Roberts, Robert G. Cooper, Christiaan G. J. Saris, Ger J.M. Pruijn, Hector Chinoy, Baziel G.M. van Engelen

    Izdano 2017
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  11. 11
    <i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

    <i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation od Anna Sárközy, Debbie Hicks, Judith A. Hudson, S.H. Laval, Rita Barresi, David Hilton‐Jones, Marcus Deschauer, Elizabeth Harris, Laura Rufibach, Esther Hwang, Rumaisa Bashir, Maggie C. Walter, Sabine Krause, Peter Van den Bergh, Isabel Illa, I. Pénisson-Besnier, Liesbeth De Waele, Douglass M. Turnbull, Michela Guglieri, Bertold Schrank, Benedikt Schoser, Jürgen Seeger, Herbert Schreiber, Dieter Gläser, Michelle Eagle, Geraldine Bailey, R. J. Walters, Cheryl Longman, Fiona Norwood, J. Winer, Francesco Muntoni, Michael G. Hanna, Mark Roberts, Laurence A. Bindoff, Charlotte Brierley, Robert G. Cooper, David A. Cottrell, Nick Davies, Andrew Gibson, Gráinne S. Gorman, Simon Hammans, Andrew P. Jackson, Aijaz Khan, Russell J.M. Lane, John McConville, Meriel McEntagart, A. Al‐Memar, John Nixon, Jay Panicker, Matt Parton, Richard Petty, Christopher J. Price, Wojtek Rakowicz, Partha S. Ray, Anthony H.V. Schapira, Robert Swingler, Chris Turner, Kathryn R. Wagner, Paul Maddison, Pamela J. Shaw, Volker Straub, Kate Bushby, Hanns Lochmüller

    Izdano 2013
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