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pro vyhledávání: '"D. Hilton Jones"'
Akademický článek
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Autor:
D Hilton-Jones, S Brady
Publikováno v:
Journal of internal medicine. 280(1)
Inclusion body myositis (IBM) was first identified as a specific disorder about 40 years ago and is now recognized to be the most frequently presenting primary myopathy in middle age and beyond. Initial characterization was based on the observation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e933dc99e2007286ff59864054071e7
https://pubmed.ncbi.nlm.nih.gov/27027255
https://pubmed.ncbi.nlm.nih.gov/27027255
Autor:
Olivier Benveniste, Lisa G. Rider, R. Aggarwal, Y. Allenbach, O. Benveniste, J.L. De Bleecker, I. de Groot, H. Devilliers, D. Hilton-Jones, J.-Y. Hogrel, I.E. Lundberg, A.L. Mammen, null Oakley, C. Oddis, G. Padberg, D. Ponce, L.G. Rider, M.R. Rose, H. Sanner, A. Selva- O'Callaghan, M. de Visser, A. Wells, V.P. Werth
Publikováno v:
Neuromuscular disorders, 26(8), 523-534. Elsevier Limited
Neuromuscular Disorders, 26, 523-34
Neuromuscular Disorders, 26, 8, pp. 523-34
Neuromuscular Disorders, 26, 523-34
Neuromuscular Disorders, 26, 8, pp. 523-34
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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a80fba086548e59cb395a1990ba3440
https://doi.org/10.1016/j.nmd.2016.05.014
https://doi.org/10.1016/j.nmd.2016.05.014
Autor:
D Hilton Jones, Cheryl Longman, Y Yuva, Matthew Wright, Francesco Muntoni, AK Lampe, Thomas Voit, Caroline Sewry, Eugenio Mercuri, Volker Straub, Martin Brockington, S Brown, Kate Bushby, Carsten G. Bönnemann, Ingrid Hausser, Maria Kinali
Publikováno v:
Neuropediatrics. 35:224-229
We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with short stature, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb000721a7fabe66e882a8b623cb489f
https://doi.org/10.1055/s-2004-821084
https://doi.org/10.1055/s-2004-821084
Akademický článek
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Akademický článek
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Autor:
Thomas A. Cooper, H. Jaeger, D. Furutama, M. Siciliano, Giovanni Antonini, Geneviève Gourdon, S. Michalowski, E. Eddy, R. Krahe, John W. Day, S. E. Harris, J. P. Barbet, M. Shimizu, G. B. Browne, M. Gosling, A. V. Philips, Loreto Martorell, P. Maire, Glenn E. Morris, Zeljka Korade, N. Carey, Richard R. Sinden, C. A. Thornton, A. M. Mitchell, M. Baiget, A. Balasubramanyam, L. P.W. Ranum, Shigeru Sato, M. Eriksson, T. Kobayashi, M. Khajavi, J. Mathieu, F. K. Gould, B. Eymard, D. Pribnow, R. H. Singer, J. D. Griffith, C. Liquori, M. Wagner, T. Ansved, D. E. Housman, N. Spring, A. Johansson, S. Salvatori, B. Luciano, Claudia Abbruzzese, I. Gonzales, J. Adelman, J. P. Mounsey, B. Wieringa, J. Waring, B. Perryman, D. Furling, M. Devillers, H. Furuya, F. Lehmann, H. Yamagata, M. S. Mahadevan, Darren G. Monckton, Geoffrey P. Miller, D. Hilton Jones, A. S. Lia-Baldini, J. Westerlaken, M. Swanson, S. J. Tapscott, T. R. Klesert, R. D. Wells, N. Ohsawa, H. Seznec, H. Moore, E. J. Chen, M. Hamshere, Tetsuo Ashizawa, U. Kvist, A. D. Roses, C. Junien, Catherine L Winchester, M. Gennarelli, M. Kinoshita, K. Johnson, Christopher E. Pearson, Lubov Timchenko, J. R. Moorman
Publikováno v:
Neurology. 54:1218-1221
Myotonic dystrophy (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant myotonic myopathy associated with abnormalities of other organs, including eyes, heart, endocrine system, centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05f05337336afd1fbc3491f94730a7cf
https://doi.org/10.1212/wnl.54.6.1218
https://doi.org/10.1212/wnl.54.6.1218
Autor:
G O, Skeie, S, Apostolski, A, Evoli, N E, Gilhus, I, Illa, L, Harms, D, Hilton-Jones, A, Melms, J, Verschuuren, H W, Horge
Publikováno v:
European journal of neurology. 17(7)
Important progress has been made in our understanding of the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (Isaacs' syndrome).To prepare consensus guidelines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b12643a25bbb6fb18b3aff65da51fe28
https://pubmed.ncbi.nlm.nih.gov/20402760
https://pubmed.ncbi.nlm.nih.gov/20402760
Publikováno v:
Neuromuscular Disorders. 21:732-733
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7ab4d53e89ecd2ec2d7cecbfc225cce
https://doi.org/10.1016/j.nmd.2011.06.1059
https://doi.org/10.1016/j.nmd.2011.06.1059
Autor:
M E, Hill, G A, Creed, T F, McMullan, A G, Tyers, D, Hilton-Jones, D O, Robinson, S R, Hammans
Publikováno v:
Brain : a journal of neurology. 124(Pt 3)
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1763dcc583df1d14e8fc1dd9c972dac2
https://pubmed.ncbi.nlm.nih.gov/11222452
https://pubmed.ncbi.nlm.nih.gov/11222452