POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
van Reeuwijk, J, Janssen, M, van den Elzen, C, Beltran-Valero de Bernabé, D, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M A, Verrips, A, Walsh, C A, Barth, P G, Brunner, H G, van Bokhoven, H
Published in Journal of medical genetics (01.12.2005)
Published in Journal of medical genetics (01.12.2005)
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C
BROCKINGTON, Martin, YUVA, Yeliz, FALLET, Shari, ROMERO, Norma, FARDEAU, Michel, STRAUB, Volker, STOREY, Gillian, POLLITT, Christine, RICHARD, Isabelle, SEWRY, Caroline A, BUSHBY, Kate, VOIT, Thomas, PRANDINI, Paola, BLAKE, Derek J, MUNTONI, Francesco, BROWN, Susan C, TORELLI, Silvia, BENSON, Matthew A, HERRMANN, Ralf, ANDERSON, Louise V. B, BASHIR, Rumaisa, BURGUNDER, Jean-Marc
Published in Human molecular genetics (01.12.2001)
Published in Human molecular genetics (01.12.2001)
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Journal Article
The phenotype of limb-girdle muscular dystrophy type 2I
Poppe, M, Cree, L, Bourke, J, Eagle, M, Anderson, L V B, Birchall, D, Brockington, M, Buddles, M, Busby, M, Muntoni, F, Wills, A, Bushby, K
Published in Neurology (22.04.2003)
Published in Neurology (22.04.2003)
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Zhou, Haiyan, Jungbluth, Heinz, Sewry, Caroline A., Feng, Lucy, Bertini, Enrico, Bushby, Kate, Straub, Volker, Roper, Helen, Rose, Michael R., Brockington, Martin, Kinali, Maria, Manzur, Adnan, Robb, Stephanie, Appleton, Richard, Messina, Sonia, D'Amico, Adele, Quinlivan, Ros, Swash, Michael, Müller, Clemens R., Brown, Susan, Treves, Susan, Muntoni, Francesco
Published in Brain (London, England : 1878) (01.08.2007)
Published in Brain (London, England : 1878) (01.08.2007)
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Journal Article
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
Jungbluth, H, Zhou, H, Hartley, L, Halliger-Keller, B, Messina, S, Longman, C, Brockington, M, Robb, S A, Straub, V, Voit, T, Swash, M, Ferreiro, A, Bydder, G, Sewry, C A, Müller, C, Muntoni, F
Published in Neurology (27.12.2005)
Published in Neurology (27.12.2005)
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Extraordinary phase separation and segregation in vent fluids from the southern East Pacific Rise
Von Damm, K.L., Lilley, M.D., Shanks, W.C., Brockington, M., Bray, A.M., O’Grady, K.M., Olson, E., Graham, A., Proskurowski, G.
Published in Earth and planetary science letters (01.02.2003)
Published in Earth and planetary science letters (01.02.2003)
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Journal Article
Defective glycosylation in muscular dystrophy
Muntoni, Francesco, Brockington, Martin, Blake, Derek J, Torelli, Silvia, Brown, Susan C
Published in The Lancet (British edition) (02.11.2002)
Published in The Lancet (British edition) (02.11.2002)
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Journal Article
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
Topaloglu, H, Brockington, M, Yuva, Y, Talim, B, Haliloglu, G, Blake, D, Torelli, S, Brown, S C, Muntoni, F
Published in Neurology (25.03.2003)
Published in Neurology (25.03.2003)
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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
Jungbluth, H, Müller, C R, Halliger-Keller, B, Brockington, M, Brown, S C, Feng, L, Chattopadhyay, A, Mercuri, E, Manzur, A Y, Ferreiro, A, Laing, N G, Davis, M R, Roper, H P, Dubowitz, V, Bydder, G, Sewry, C A, Muntoni, F
Published in Neurology (23.07.2002)
Published in Neurology (23.07.2002)
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EM.P.2.01 Expression analysis of α-dystroglycan glycosyltransferases during myoblast-myotube differentiation
Brockington, M, Torelli, S, Godfrey, C, Muntoni, F
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
Mercuri, E, Yuva, Y, Brown, S C, Brockington, M, Kinali, M, Jungbluth, H, Feng, L, Sewry, C A, Muntoni, F
Published in Neurology (14.05.2002)
Published in Neurology (14.05.2002)
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EM.P.2.03 An investigation of candidate genes in dystroglycanopathy patients
Godfrey, C, Clement, E, Torelli, S, Brockington, M, Abbs, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype
Mercuri, E, Cini, C, Pichiecchio, A, Allsop, J, Counsell, S, Zolkipli, Z, Messina, S, Kinali, M, Brown, S.C, Jimenez, C, Brockington, M, Yuva, Y, Sewry, C.A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.09.2003)
Published in Neuromuscular disorders : NMD (01.09.2003)
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Journal Article
Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42
Brockington, Martin, Sewry, Caroline A., Herrmann, Ralf, Naom, Isam, Dearlove, Andrew, Rhodes, Michael, Topaloglu, Haluk, Dubowitz, Victor, Voit, Thomas, Muntoni, Francesco
Published in American journal of human genetics (01.02.2000)
Published in American journal of human genetics (01.02.2000)
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Journal Article
Muscular dystrophies due to defective glycosylation of dystroglycan
Muntoni, F, Brockington, M, Godfrey, C, Ackroyd, M, Robb, S, Manzur, A, Kinali, M, Mercuri, E, Kaluarachchi, M, Feng, L, Jimenez-Mallebrera, C, Clement, E, Torelli, S, Sewry, C A, Brown, S C
Published in Acta myologica (01.12.2007)
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Published in Acta myologica (01.12.2007)
Journal Article
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
Dolatshad, N.F., Brockington, M., Torelli, S., Skordis, L., Wever, U., Wells, D.J., Muntoni, F., Brown, S.C.
Published in Experimental cell research (01.10.2005)
Published in Experimental cell research (01.10.2005)
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