Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
Pane, M, Messina, S, Vasco, G, Foley, A.R, Morandi, L, Pegoraro, E, Mongini, T, D’Amico, A, Bianco, F, Lombardo, M.E, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, F.M, Bertini, E, Muntoni, F, Mercuri, E
Published in Neuromuscular disorders : NMD (01.08.2012)
Published in Neuromuscular disorders : NMD (01.08.2012)
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Journal Article
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
Kim, J, Jimenez-Mallebrera, C, Foley, A.R, Fernandez-Fuente, M, Brown, S.C, Torelli, S, Feng, L, Sewry, C.A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.02.2012)
Published in Neuromuscular disorders : NMD (01.02.2012)
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Journal Article
G.P.248
Foley, A.R, Coman, C, Tobin, A, Kehoe, N, Shinners, B, Timothy, A, McGrath, M, Goode, M, Lynch, B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies
Foley, A.R, Phadke, R, Feng, L, Sewry, C.A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
G.P.34
Chauveau, C, Bönnemann, C.G, Julien, C, Kho, A.L, Marks, H, Talim, B, Maury, P, Uro-Coste, E, Alexandrovich, A, Vihola, A, Foley, A.R, Santi, M, Udd, B, Topaloglu, H, Moore, S.A, Gotthardt, M, Samuels, M.E, Gautel, M, Ferreiro, A
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.22 Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM)
Donkervoort, S, Hu, Y, Dastgir, J, Meilleur, K, Zou, Y, Foley, A.R, Harper, A, Bonnemann, C.G
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing
Scoto, M, Cirak, S, Whyte, T, Foley, A.R, Pitt, M, Polke, J, Hurles, M.E, Manzur, A.Y, Reilly, M.M, Muntoni, F
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series
Scoto, M, Rossor, A, Harms, M.B, Calissano, M, Cirak, S, Foley, A.R, Sewry, C, Hafezparast, M, Robb, S, Manzur, A.Y, Baloh, R.H, Reilly, M.M, Muntoni, F
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
T.P.42
Meilleur, K.M, Jain, M.S, Hynan, L.S, Shieh, C.Y, Kim, E, Waite, M, McGuire, M, Fiorini, C, Glanzman, A, Main, M, Rose, K, Duong, T, Linton, M.M, Arveson, I.C, Nichols, C, Yang, K, Smith, M, Donkervoort, S, Leach, M.E, Foley, A.R, Collins, J, Muntoni, F, Rutkowski, A, Bönnemann, C.G
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.214
Hu, Y, Donkervoot, S, Stojkovic, T, Voermans, N, Foley, A.R, Leach, M, Dastgir, J, Bolduc, V, Cullup, T, Becdelièvre, A, Yang, L, Su, H, Meilleur, K, Schindler, A, Kamsteeg, E, Richard, P, Butterfield, R, Winder, T, Crawford, T, Weiss, R, Muntoni, F, Allamand, V, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy
Foley, A.R, Shoffner, J, Weiss, R, Bonnemann, C.G
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study
Foley, A.R, Quijano-Roy, S, Collins, J, Straub, V, McCallum, M, Deconinck, N, Mercuri, E, Pane, M, D’Amico, A, Bertini, E, North, K, Ryan, M.M, Auh, S, Muntoni, F, Bönnemann, C.G
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies
Pandraud, A, Johnson, J.O, Singleton, A.B, Clayton, P, Land, J, Hargreaves, I, Foley, A.R, Muntoni, F, Reilly, M.M, Houlden, H
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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Journal Article
P65 Whole genome analysis in a family with dominant muscle disease
Pitceathly, R.D.S, He, J, Foley, A.R, Muntoni, F, Pearson, N, Hanna, M.G
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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Journal Article
G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies
Stevens, E, Carss, K, Cirak, S, Torelli, S, Foley, A.R, Sewry, C, Topaloglu, H, Haliloglu, G, Stemple, D, Hurles, M, Lin, Y.Y, Muntoni, F
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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S.P.23 Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy
Collins, J, Vandyke, R, Fenchel, M, McCallum, M, Volker, S, Foley, A.R, Muntoni, F, Stehling, F, Schara, U, Rutkowski, A, Deconinck, N, Sawnani, H, Bonnemann, C.G, Amin, R
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling
Sharpe, J.A, Logan, C.V, Szabadkai, G, Parry, D.A, Torelli, S, Childs, A.-M, Kriek, M, Phadke, R, Johnson, C.A, Roberts, N.Y, Bonthron, D.T, Pysden, K.A, Whyte, T, Munteanu, I, Foley, A.R, Wheway, G, Szymanska, K, Natarajan, S, Abdelhamed, Z.A, Morgan, J.E, Roper, H, Santen, G.W.E, Niks, E.H, van der Pol, W.L, Lindhout, D, Raffaello, A, De Stefani, D, den Dunnen, J.T, Sun, Y, Ginjaar, I, Sewry, C.A, Hurles, M, Rizzuto, R, Duchen, M.R, Muntoni, F, Sheridan, E
Published in Neuromuscular disorders : NMD (01.03.2014)
Published in Neuromuscular disorders : NMD (01.03.2014)
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O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement
Foley, A.R, Broomfield, A.A, Pandraud, A, Johnson, J.O, Singleton, A.B, Hargreaves, I.P, Land, J.M, Grunewald, S, Rahman, S, Clayton, P, Houlden, H, Reilly, M.M, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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