Improving genetic diagnostics of skeletal muscle channelopathies
Vivekanandam, Vinojini, Männikkö, Roope, Matthews, Emma, Hanna, Michael G
Published in Expert review of molecular diagnostics (02.07.2020)
Published in Expert review of molecular diagnostics (02.07.2020)
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Journal Article
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy
Suetterlin, Karen, Männikkö, Roope, Hanna, Michael G
Published in Current opinion in neurology (01.10.2014)
Published in Current opinion in neurology (01.10.2014)
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Journal Article
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy
Carpenter, Jenna C., Männikkö, Roope, Heffner, Catherine, Heneine, Jana, Sampedro‐Castañeda, Marisol, Lignani, Gabriele, Schorge, Stephanie
Published in Epilepsia (Copenhagen) (01.05.2021)
Published in Epilepsia (Copenhagen) (01.05.2021)
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Journal Article
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis
Tan, S. Veronica, Suetterlin, Karen, Männikkö, Roope, Matthews, Emma, Hanna, Michael G., Bostock, Hugh
Published in Clinical neurophysiology (01.04.2020)
Published in Clinical neurophysiology (01.04.2020)
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Journal Article
De novo KCNA2 mutations cause hereditary spastic paraplegia
Manole, Andreea, Männikkö, Roope, Hanna, Michael G., Kullmann, Dimitri M., Houlden, Henry
Published in Annals of neurology (01.02.2017)
Published in Annals of neurology (01.02.2017)
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Journal Article
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene
Palmio, Johanna, Sandell, Satu, Hanna, Michael G, Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
Published in Neurology (18.04.2017)
Published in Neurology (18.04.2017)
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Journal Article
WED 236 Skeletal muscle channelopathies and sudden infant death syndrome
Emma, Matthews, Roope, Mannikko, Leonie, Wong, Dimitri, Kullmann, Sanjay, Sisodiya, Peter, Fleming, Elijah, Behr, Michael, Hanna
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
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Journal Article
Ageing contributes to phenotype transition in a mouse model of periodic paralysis
Suetterlin, Karen J., Tan, S. Veronica, Mannikko, Roope, Phadke, Rahul, Orford, Michael, Eaton, Simon, Sayer, Avan A., Grounds, Miranda D., Matthews, Emma, Greensmith, Linda, Hanna, Michael G.
Published in JCSM rapid communications (01.07.2021)
Published in JCSM rapid communications (01.07.2021)
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Journal Article
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.
Published in Epilepsia open (01.09.2019)
Published in Epilepsia open (01.09.2019)
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Journal Article
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes
Babiker, Tarig, Vedovato, Natascia, Patel, Kashyap, Thomas, Nicholas, Finn, Roisin, Männikkö, Roope, Chakera, Ali J., Flanagan, Sarah E., Shepherd, Maggie H., Ellard, Sian, Ashcroft, Frances M., Hattersley, Andrew T.
Published in Diabetologia (01.06.2016)
Published in Diabetologia (01.06.2016)
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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
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
Shimomura, Kenju, Flanagan, Sarah E., Zadek, Brittany, Lethby, Mark, Zubcevic, Lejla, Girard, Christophe A. J., Petz, Oliver, Mannikko, Roope, Kapoor, Ritika R., Hussain, Khalid, Skae, Mars, Clayton, Peter, Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M.
Published in EMBO molecular medicine (01.06.2009)
Published in EMBO molecular medicine (01.06.2009)
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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
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Männikkö, Roope, Wong, Leonie, Tester, David J, Thor, Michael G, Sud, Richa, Kullmann, Dimitri M, Sweeney, Mary G, Leu, Costin, Sisodiya, Sanjay M, FitzPatrick, David R, Evans, Margaret J, Jeffrey, Iona J M, Tfelt-Hansen, Jacob, Cohen, Marta C, Fleming, Peter J, Jaye, Amie, Simpson, Michael A, Ackerman, Michael J, Hanna, Michael G, Behr, Elijah R, Matthews, Emma
Published in The Lancet (British edition) (14.04.2018)
Published in The Lancet (British edition) (14.04.2018)
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Journal Article
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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Journal Article
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma
Published in Brain (London, England : 1878) (01.12.2018)
Published in Brain (London, England : 1878) (01.12.2018)
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