Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome
McMacken, Grace M, Spendiff, Sally, Whittaker, Roger G, O’Connor, Emily, Howarth, Rachel M, Boczonadi, Veronika, Horvath, Rita, Slater, Clarke R, Lochmüller, Hanns
Published in Human molecular genetics (15.07.2019)
Published in Human molecular genetics (15.07.2019)
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Journal Article
A multi-source approach to determine SMA incidence and research ready population
Verhaart, Ingrid E. C., Robertson, Agata, Leary, Rebecca, McMacken, Grace, König, Kirsten, Kirschner, Janbernd, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns
Published in Journal of neurology (01.07.2017)
Published in Journal of neurology (01.07.2017)
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Journal Article
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
McMacken, Grace, Cox, Dan, Roos, Andreas, Müller, Juliane, Whittaker, Roger, Lochmüller, Hanns
Published in Human molecular genetics (01.05.2018)
Published in Human molecular genetics (01.05.2018)
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Journal Article
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Published in European journal of human genetics : EJHG (01.03.2020)
Published in European journal of human genetics : EJHG (01.03.2020)
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Journal Article
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome
Spendiff, Sally, Howarth, Rachel, McMacken, Grace, Davey, Tracey, Quinlan, Kaitlyn, O'Connor, Emily, Slater, Clarke, Hettwer, Stefan, Mäder, Armin, Roos, Andreas, Horvath, Rita, Lochmüller, Hanns
Published in Frontiers in molecular neuroscience (17.12.2020)
Published in Frontiers in molecular neuroscience (17.12.2020)
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Journal Article
ADRENERGIC SIGNALLING AND CONGENITAL MYASTHENIC SYNDROMES
McMacken, Grace, Lochmuller, Hanns
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2016)
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Journal Article
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
McMacken, Grace, Whittaker, Roger G., Evangelista, Teresinha, Abicht, Angela, Dusl, Marina, Lochmüller, Hanns
Published in Journal of neurology (01.01.2018)
Published in Journal of neurology (01.01.2018)
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Journal Article
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes
McMacken, Grace, Abicht, Angela, Evangelista, Teresinha, Spendiff, Sally, Lochmüller, Hanns
Published in Neuropediatrics (01.08.2017)
Published in Neuropediatrics (01.08.2017)
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Journal Article
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Published in Journal of neurology (01.12.2020)
Published in Journal of neurology (01.12.2020)
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Journal Article
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy
Moreira, Sandra, Wood, Libby, Smith, Debbie, Marini-Bettolo, Chiara, Guglieri, Michela, McMacken, Grace, Bailey, Geraldine, Mayhew, Anna, Muni-Lofra, Robert, Eglon, Gail, Williams, Maggie, Straub, Volker, Lochmüller, Hanns, Evangelista, Teresinha
Published in Journal of neurology (01.06.2017)
Published in Journal of neurology (01.06.2017)
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Journal Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Web Resource
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
Published in Neuromuscular disorders : NMD (01.08.2020)
Published in Neuromuscular disorders : NMD (01.08.2020)
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Journal Article
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine L, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
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Journal Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
When ischaemia is not ischaemia
McMacken, Grace, Kerr, Enda, Burns, Paul
Published in British journal of hospital medicine (London, England : 2005) (01.12.2014)
Published in British journal of hospital medicine (London, England : 2005) (01.12.2014)
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