Prevalence study of genetically defined skeletal muscle channelopathies in England
Horga, Alejandro, Raja Rayan, Dipa L, Matthews, Emma, Sud, Richa, Fialho, Doreen, Durran, Siobhan C M, Burge, James A, Portaro, Simona, Davis, Mary B, Haworth, Andrea, Hanna, Michael G
Published in Neurology (16.04.2013)
Published in Neurology (16.04.2013)
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Journal Article
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes
TRIVEDI, Jaya R, BUNDY, Brian, GORHAM, Nina, HERBELIN, Laura, CANNON, Stephen, AMATO, Anthony, GRIGGS, Robert C, HANNA, Michael G, BAROHN, Richard J, STATLAND, Jeffrey, SALAJEGHEH, Mohammad, DIPA RAJA RAYAN, VENANCE, Shannon L, YUNXIA WANG, FIALHO, Doreen, MATTHEWS, Emma, CLELAND, James
Published in Brain (London, England : 1878) (01.07.2013)
Published in Brain (London, England : 1878) (01.07.2013)
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Journal Article
Refined exercise testing can aid dna-based diagnosis in muscle channelopathies
Tan, S. Veronica, Matthews, Emma, Barber, Melissa, Burge, James A., Rajakulendran, Sanjeev, Fialho, Doreen, Sud, Richa, Haworth, Andrea, Koltzenburg, Martin, Hanna, Michael G.
Published in Annals of neurology (01.02.2011)
Published in Annals of neurology (01.02.2011)
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Journal Article
Treatment Updates for Neuromuscular Channelopathies
Jitpimolmard, Nantaporn, Matthews, Emma, Fialho, Doreen
Published in Current treatment options in neurology (2020)
Published in Current treatment options in neurology (2020)
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Journal Article
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia
Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Journal Article
Crossover randomized controlled trial of bumetanide to rescue an attack of exercise induced hand weakness in hypokalaemic periodic paralysis
Scalco, Renata Siciliani, Morrow, Jasper M, Manole, Andreea, Skorupinska, Iwona, Ricciardi, Federico, Matthews, Emma, Hanna, Michael G, Fialho, Doreen
Published in Neuromuscular disorders : NMD (01.02.2024)
Published in Neuromuscular disorders : NMD (01.02.2024)
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Journal Article
Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort
Vivekanandam, Vinojini, Mannikko, Roope, Fialho, Doreen, Merve, A, Pattni, J, Marini-Bettolo, C, Savvatis, K, Behr, ER, Hanna, Michael, Matthews, Emma
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Journal Article
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity
Vivekanandam, Vinojini, Männikkö, Roope, Skorupinska, Iwona, Germain, Louise, Gray, Belinda, Wedderburn, Sarah, Kozyra, Damian, Sud, Richa, James, Natalie, Holmes, Sarah, Savvatis, Konstantinos, Fialho, Doreen, Merve, Ashirwad, Pattni, Jatin, Farrugia, Maria, Behr, Elijah R, Marini-Bettolo, Chiara, Hanna, Michael G, Matthews, Emma
Published in Brain (London, England : 1878) (30.06.2022)
Published in Brain (London, England : 1878) (30.06.2022)
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Journal Article
The long exercise test as a functional marker of periodic paralysis
Ribeiro, Ana, Suetterlin, Karen J., Skorupinska, Iwona, Tan, S. Veronica, Morrow, Jasper M., Matthews, Emma, Hanna, Michael G., Fialho, Doreen
Published in Muscle & nerve (01.05.2022)
Published in Muscle & nerve (01.05.2022)
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Journal Article
Periodic paralysis
Fialho, Doreen, Griggs, Robert C., Matthews, Emma
Published in Handbook of Clinical Neurology (2018)
Published in Handbook of Clinical Neurology (2018)
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Book Chapter
Journal Article
Somatosensory Evoked Potentials and Central Motor Conduction Times in children with dystonia and their correlation with outcomes from Deep Brain Stimulation of the Globus pallidus internus
McClelland, Verity M., Fialho, Doreen, Flexney-Briscoe, Denise, Holder, Graham E., Elze, Markus C., Gimeno, Hortensia, Siddiqui, Ata, Mills, Kerry, Selway, Richard, Lin, Jean-Pierre
Published in Clinical neurophysiology (01.02.2018)
Published in Clinical neurophysiology (01.02.2018)
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Journal Article
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews, Emma, Neuwirth, Christoph, Jaffer, Fatima, Scalco, Renata S, Fialho, Doreen, Parton, Matt, Raja Rayan, Dipa, Suetterlin, Karen, Sud, Richa, Spiegel, Roland, Mein, Rachel, Houlden, Henry, Schaefer, Andrew, Healy, Estelle, Palace, Jacqueline, Quinlivan, Ros, Treves, Susan, Holton, Janice L, Jungbluth, Heinz, Hanna, Michael G
Published in Neurology (30.01.2018)
Published in Neurology (30.01.2018)
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Journal Article
Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when
Pipis, Menelaos, Jaunmuktane, Zane, Marafioti, Teresa, Brandner, Sebastian, Smith, Elaine C, D'Sa, Shirley, Lunn, Michael P, Cwynarski, Kate, Fialho, Doreen, Shah, Sachit, Fuller, Geraint N, Reilly, Mary M
Published in Practical neurology (01.06.2024)
Published in Practical neurology (01.06.2024)
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Journal Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Horvath, Rita, Hudson, Gavin, Ferrari, Gianfrancesco, Fütterer, Nancy, Ahola, Sofia, Lamantea, Eleonora, Prokisch, Holger, Lochmüller, Hanns, McFarland, Robert, Ramesh, V., Klopstock, Thomas, Freisinger, Peter, Salvi, Fabrizio, Mayr, Johannes A., Santer, Rene, Tesarova, Marketa, Zeman, Jiri, Udd, Bjarne, Taylor, Robert W., Turnbull, Douglass, Hanna, Michael, Fialho, Doreen, Suomalainen, Anu, Zeviani, Massimo, Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.07.2006)
Published in Brain (London, England : 1878) (01.07.2006)
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Journal Article
Platform Session – Evoked potentials & NIOM: Somatosensory evoked potentials and central motor conduction times help predict outcomes from deep brain stimulation (DBS) in children with dystonia
McClelland, Verity M., Fialho, Doreen, Flexney-Briscoe, Denise, Holder, Graham, Elze, Markus, Gimeno, Hortensia, Siddiqui, Ata, Mills, Kerry, Selway, Richard, Lin, Jean-Pierre
Published in Clinical neurophysiology (01.05.2018)
Published in Clinical neurophysiology (01.05.2018)
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Journal Article
O135 Sensory evoked potentials and central motor conduction times in children with dystonia help predict outcomes from Deep Brain Stimulation (DBS)
McClelland, Verity, Fialho, Doreen, Flexney-Briscoe, Denise, Holder, Graham, Elze, Markus, Gimeno, Hortensia, Siddiqui, Ata, Selway, Richard, Mills, Kerry, Lin, Jean-Pierre
Published in Clinical neurophysiology (01.09.2017)
Published in Clinical neurophysiology (01.09.2017)
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Journal Article
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies
Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert D.S, Hilton-Jones, David, Schapira, Anthony H, Turner, Chris, Parton, Matt, Desikan, Mahalekshmi, Barresi, Rita, Marsh, Julie, Manzur, Adnan Y, Childs, Anne-Marie, Feng, Lucy, Murphy, Elaine, Lamont, Phillipa J, Ravenscroft, Gianina, Wallefeld, William, Davis, Mark R, Laing, Nigel G, Holton, Janice L, Fialho, Doreen, Bushby, Kate, Hanna, Michael G, Phadke, Rahul, Jungbluth, Heinz, Houlden, Henry, Quinlivan, Ros
Published in Neuromuscular disorders : NMD (01.08.2016)
Published in Neuromuscular disorders : NMD (01.08.2016)
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Journal Article