Výsledky vyhledávání - Matt Parton
- Zobrazuji výsledky 1 - 11 z 11
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1
A practical approach to diagnosing adult onset leukodystrophies Autor 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
Vydáno 2013Artigo -
2
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies Autor 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
Vydáno 2018Artigo -
3
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy Autor 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
Vydáno 2017Artigo -
4
Clinical features of the myasthenic syndrome arising from mutations in GMPPB Autor 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
Vydáno 2016Artigo -
5
Atypical periodic paralysis and myalgia Autor 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
Vydáno 2018Artigo -
6
Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies Autor 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
Vydáno 2015Artigo -
7
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis Autor 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
Vydáno 2015Artigo -
8
Targeting protein homeostasis in sporadic inclusion body myositis Autor 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
Vydáno 2016Artigo -
9
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies Autor 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
Vydáno 2016Artigo -
10
Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis Autor 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
Vydáno 2017Artigo -
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 Autor 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
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Biology
Gene
Genetics
Pathology
Biopsy
Muscle biopsy
Muscular dystrophy
Mutation
Allele
Bioinformatics
Congenital myasthenic syndrome
Disease
Inclusion body myositis
Limb-girdle muscular dystrophy
Myopathy
Myositis
Neuromuscular transmission
Phenotype
Psychiatry
Receptor
Surgery
Weakness
myalgia
5'-nucleotidase
Acetylcholine receptor
Adenosine
Age of onset
Anatomy