Filling in the gap between exome and genome: mRNA analysis as a clinical diagnosis tool
Gonorazky, H, Yoon, G, Sabha, N, Tsuchiya, E, Amburgey, K, Marshall, C, Dowling, J
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
P.4.7 The natural history of myotubular myopathy, summary of the first year of enrollment
Amburgey, K, Julian, D, Howell, E, Britt, M, Dowling, J.J
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.P.47
Chrestian, N, Dowling, J, Amburgey, K, Moraes, T, Cohn, R, Hawkins, C, Halliday, W, McAdam, L, Biggar, D, Vajsar, J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.48
Amburgey, K, Bailey, A, Hwang, J.H, Tarnopolsky, M.A, Bönnemann, C.G, Medne, L, Mathews, K.D, Collins, J, Daube, J.R, Wellman, G.P, Callaghan, B, Vajsar, J, Yoon, G, Cohn, R, Clarke, N.F, Dowling, J.J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Large duplication in MTM1 associated with myotubular myopathy
Amburgey, K, Lawlor, M.W, del Gaudio, D, Cheng, Y.W, Fitzpatrick, C, Minor, A, Li, X, Aughton, D, Das, S, Beggs, A.H, Dowling, J.J
Published in Neuromuscular disorders : NMD (01.03.2013)
Published in Neuromuscular disorders : NMD (01.03.2013)
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Journal Article
C.P.2 In silico analysis of recessive RYR1 mutations identifies novel potential disease mechanisms
Hwang, J.H, Amburgey, K, Treves, S, Zorzato, F, Dowling, J.J, Clarke, N.F
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
G.P.39
Annoussamy, M, Landy, H, Ramsdell, D, Nelken, M, Muntoni, F, Bönnemann, C, Bharucha, D, Dowling, J.J, Amburgey, K, Lilien, C, Ollivier, G, Laporte, J, Biancalana, V, Schara, U, Cuisset, J.M, D’Amico, A, Deconinck, N, Jeannet, P.Y, Klein, A, Fluss, J, Mayer, M, Seferian, A.M, Moing, A.G. Le, Gidaro, T, Hogrel, J.Y, Mingozzi, F, Buj-Bello, A, Voit, T, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene
Dowling, J, Lillis, S, Amburgey, K, Leber, S, Zhou, H, Al-Sarraj, S, Wraige, E, Abbs, S, Sewry, C, Muntoni, F, Jungbluth, H
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
VP.08 Interests and experiences of young adults with muscular dystrophy in receiving genetic information
Hammond, L., Amburgey, K., Chitayat, D., Hewson, S., McAdam, L.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
P66 Salbutamol therapy in a neuromuscular cohort
Nigro, E., Amburgey, K., Djordjevic, D., Alawneh, I., Gonorazky, H., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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MOTOR NEURON DISORDERS AND NEUROPATHIES: EP.240 Charcot-Marie-Tooth disease, clinical and genetic features in a Canadian pediatric cohort
Alemán, A., Alharthi, N., Amburgey, K., Vajsar, J., Yoon, G., Bouchard, M., Dowling, J., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
MOTOR NEURON DISORDERS AND NEUROPATHIES
Alemán, A., Alharthi, N., Amburgey, K., Vajsar, J., Yoon, G., Bouchard, M., Dowling, J., Gonorazky, H.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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CONGENITAL MYOPATHIES (CNM)
Gonorazky, H., Amburgey, K., Hawkins, C., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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CONGENITAL MYOPATHIES 2
Qashqari, H., Gonorazky, H., Amburgey, K., Yoon, G., Hazrati, L., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Journal Article
CONGENITAL MYOPATHIES 2: P.104 Titin related myopathy with ophthalmoplegia
Qashqari, H., Gonorazky, H., Amburgey, K., Yoon, G., Hazrati, L., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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O.08 Biallelic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase (PCK2) cause a recessive form of Charcot-Marie-Tooth disease
Sondheimer, N., Aleman, A., Cameron, J., Gonorazky, H., Sabha, N., Oliveira, P., Wahedl, A., Wang, D., Amburgey, K., Shy, M., Dowling, J.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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