Demyelination patterns in a mathematical model of multiple sclerosis
Lombardo, M. C., Barresi, R., Bilotta, E., Gargano, F., Pantano, P., Sammartino, M.
Published in Journal of mathematical biology (01.08.2017)
Published in Journal of mathematical biology (01.08.2017)
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
HICKS, Debbie, SARKOZY, Anna, BAILEY, Geraldine, MILLER, James, RADUNOVIC, Aleksander, HUGHES, Paul J, ROBERT, Richard, KRAUSE, Sabine, WALTER, Maggie C, LAVAL, Steven H, STRAUB, Volker, LOCHMÜLLER, Hanns, MUELAS, Nuria, BUSHBY, Kate, KÖEHLER, Katrin, HUEBNER, Angela, HUDSON, Gavin, CHINNERY, Patrick F, BARRESI, Rita, EAGLE, Michelle, POLVIKOSKI, Tuomo
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
Figueroa-Bonaparte, S, Hudson, J, Barresi, R, Polvikoski, T, Williams, T, Töpf, A, Harris, E, Hilton-Jones, D, Petty, R, Willis, T A, Longman, C, Dougan, C F, Parton, M J, Hanna, M G, Quinlivan, R, Farrugia, M E, Guglieri, M, Bushby, K, Straub, V, Lochmüller, H, Evangelista, T
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2016)
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New aspects on patients affected by dysferlin deficient muscular dystrophy
Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
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Myofibrillar myopathy phenotype due to recessive mutations in MEGF10
Harris, E, Töpf, A, Hudson, J, Barresi, R, Bushby, K, Lochmüller, H, Straub, V
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
P73 The national diagnostic and advisory service for limb-girdle muscular dystrophies in Newcastle
Barresi, R, Charlton, R, Hudson, J, Bushby, K
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion
Willis, T.A., Wood, C.L., Hudson, J., Polvikoski, T., Barresi, R., Lochmüller, H., Bushby, K., Straub, V.
Published in Clinical genetics (01.08.2016)
Published in Clinical genetics (01.08.2016)
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Journal Article
A refined diagnostic algorithm for Bethlem myopathy
Hicks, D, Lampe, A K, Barresi, R, Charlton, R, Fiorillo, C, Bonnemann, C G, Hudson, J, Sutton, R, Lochmüller, H, Straub, V, Bushby, K
Published in Neurology (01.04.2008)
Published in Neurology (01.04.2008)
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Journal Article
The importance of dosage analysis in dysferlinopathy
Hudson, J, Graham, E, Charlton, R, Guglieri, M, Bushby, K, Straub, V, Barresi, R
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A
Groen, Emma J., Charlton, Richard, Barresi, Rita, Anderson, Louise V., Eagle, Michelle, Hudson, Judith, Koref, Mauro Santibanez, Straub, Volker, Bushby, Katharine M. D.
Published in Brain (London, England : 1878) (01.12.2007)
Published in Brain (London, England : 1878) (01.12.2007)
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Journal Article
A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS
Baiocco, G., Giraudo, M., Bocchini, L., Barbieri, S., Locantore, I., Brussolo, E., Giacosa, D., Meucci, L., Steffenino, S., Ballario, A., Barresi, B., Barresi, R., Benassai, M., Ravagnolo, L., Narici, L., Rizzo, A., Carrubba, E., Carubia, F., Neri, G., Crisconio, M., Piccirillo, S., Valentini, G., Barbero, S., Giacci, M., Lobascio, C., Ottolenghi, A.
Published in Life sciences in space research (01.08.2018)
Published in Life sciences in space research (01.08.2018)
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Journal Article
P28 Investigating mitochondrial dysfunction in the myofibrillar and other protein aggregate myopathies
Vincent, A, Murphy, J.L, Barresi, R, Taylor, R.W, Turnbull, D.M
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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Journal Article
Telethonin gene mutations detected by next generation sequencing
Hudson, J, Cameron, S, Graham, E, Evangelista, T, Straub, V, Guglieri, M, Barresi, R, Lochmüller, H, Norwood, F, Bushby, K, Marini-Bettolo, C
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Wavefront invasion for a chemotaxis model of Multiple Sclerosis
Barresi, R., Bilotta, E., Gargano, F., Lombardo, M. C., Pantano, P., Sammartino, M.
Published in Ricerche di matematica (01.11.2016)
Published in Ricerche di matematica (01.11.2016)
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Journal Article
G.P.280
Straub, V, Davies, N.P, Barresi, R, Morris, C, Pickthall, C, Bushby, K
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Mitochondrial dysfunction: A key player in myofibrillar myopathy?
Vincent, A, Rocha, M, Rygiel, K, Grady, J, Campbell, G, Barresi, R, Taylor, R, Turnbull, D
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy
Neri, M, Harris, E, Scotton, C, Topf, A, Fang, M, Wang, J, Barresi, R, Lochmüller, H, Straub, V, Ferlini, A
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene
Torelli, S, Sarkozy, A, Mein, R, Yau, M, Hammans, S, Radunovic, A, Henderson, M, Walker, M, Marino, S, Winder, S, Feng, L, Phadke, R, Sewry, C, Bushby, K, Muntoni, F, Barresi, R
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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