Annual Renal Ultrasound May Prevent Acute Presentation With Acetazolamide-Associated Urolithiasis

Yazar: Suetterlin, Karen J., Vivekanandam, Vinojini, James, Natalie, Sud, Richa, Holmes, Sarah, Fialho, Doreen, Hanna, Michael G., Matthews, Emma L.
Yayımlandı Neurol Clin Pract (2021)

The long exercise test as a functional marker of periodic paralysis

Yazar: Ribeiro, Ana, Suetterlin, Karen J, Skorupinska, Iwona, Tan, S.Veronica, Morrow, Jasper M, Matthews, Emma, Hanna, Michael G, Fialho, Doreen
Yayımlandı Muscle Nerve (2022)

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Yazar: Thor, Michael G., Vivekanandam, Vinojini, Sampedro-Castañeda, Marisol, Tan, S. Veronica, Suetterlin, Karen, Sud, Richa, Durran, Siobhan, Schorge, Stephanie, Kullmann, Dimitri M., Hanna, Michael G., Matthews, Emma, Männikkö, Roope
Yayımlandı Sci Rep (2019)

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Yazar: 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.
Yayımlandı Neurology (2018)

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

Yazar: Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
Yayımlandı Brain (2020)

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Yazar: Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Yayımlandı Brain (2016)