Søgeresultater - Ryan, Monique

Neurological disorders affecting the lower limb in children af Ryan, Monique

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Evolution of foot manifestations in children with Charcot-Marie-Tooth disease af Burns, Joshua, Ryan, Monique M, Ouvrier, Robert A

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Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets af Hawke, Fiona, Ryan, Monique, Ouvrier, Robert, Burns, Joshua

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Peripheral nerve disease secondary to systemic conditions in children af Wilmshurst, Jo M., Ouvrier, Robert A., Ryan, Monique M.

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Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: Prevalence and predictors af Blyton, Fiona, Ryan, Monique M., Ouvrier, Robert A., Burns, Joshua

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Correlates of calf cramp in children with Charcot-Marie-Tooth disease af Blyton, Fiona E, Ryan, Monique M, Ouvrier, Robert A, Burns, Joshua

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Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy af Kariyawasam, Didu S. T., D'Silva, Arlene, Lin, Cindy, Ryan, Monique M., Farrar, Michelle A.

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Interventions for the prevention and treatment of pes cavus af Burns, Joshua, Landorf, Karl B, Ryan, Monique M, Crosbie, Jack, Ouvrier, Robert A

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Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study af Kennedy, Rachel A., Carroll, Kate, Paterson, Kade L., Ryan, Monique M., Burns, Joshua, Rose, Kristy, McGinley, Jennifer L.

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A Novel Syndrome of Episodic Muscle Weakness Maps to Xp22.3 af Ryan, Monique M., Taylor, Peter, Donald, Jennifer A., Ouvrier, Robert A., Morgan, Graeme, Danta, Gytis, Buckley, Michael F., North, Kathryn N.

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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy af Wong, Siaw H, McClaren, Belinda J, Archibald, Alison Dalton, Weeks, Alice, Langmaid, Tess, Ryan, Monique M, Kornberg, Andrew, Metcalfe, Sylvia A

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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation af Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

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Neuronal ceroid lipofuscinosis type 2: an Australian case series af Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, Yaplito‐Lee, Joy, Fietz, Michael, Nagarajan, Lakshmi, Rodriguez‐Casero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer, Ingrid E, Ellaway, Carolyn

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Scientific rationale for a higher dose of nusinersen af Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek

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Delivering multidisciplinary neuromuscular care for children via telehealth af Carroll, Kate, Adams, Justine, de Valle, Katy, Forbes, Robin, Kennedy, Rachel A., Kornberg, Andrew J., Vandeleur, Moya, Villano, Daniella, Woodcock, Ian R., Yiu, Eppie M., Ryan, Monique M., Davidson, Zoe

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Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity af Hobbelink, Sanne M. R., Brockley, Cain R., Kennedy, Rachel A., Carroll, Kate, de Valle, Katy, Rao, Padma, Davis, Mark R., Laing, Nigel G., Voermans, Nicol C., Ryan, Monique M., Yiu, Eppie M.

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A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene af Kennerson, Marina L., Yiu, Eppie M., Chuang, David T., Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P., Rance, Gary, Delatycki, Martin B., Züchner, Stephan, Ryan, Monique M., Nicholson, Garth A.

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Diagnostic Potential of the Plasma Lipidome in Infectious Disease: Application to Acute SARS-CoV-2 Infection af Gray, Nicola, Lawler, Nathan G., Zeng, Annie Xu, Ryan, Monique, Bong, Sze How, Boughton, Berin A., Bizkarguenaga, Maider, Bruzzone, Chiara, Embade, Nieves, Wist, Julien, Holmes, Elaine, Millet, Oscar, Nicholson, Jeremy K., Whiley, Luke

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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy af Bryen, Samantha J., Oates, Emily C., Evesson, Frances J., Lu, Jessica K., Waddell, Leigh B., Joshi, Himanshu, Ryan, Monique M., Cummings, Beryl B., McLean, Catriona A., MacArthur, Daniel G., Kornberg, Andrew J., Cooper, Sandra T.

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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy af D'Silva, Arlene M., Holland, Sandra, Kariyawasam, Didu, Herbert, Karen, Barclay, Peter, Cairns, Anita, MacLennan, Suzanna C., Ryan, Monique M., Sampaio, Hugo, Smith, Nicholas, Woodcock, Ian R., Yiu, Eppie M., Alexander, Ian E., Farrar, Michelle A.

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