McMacken G - Search Results

1

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Koeks Z, et al. Among authors: mcmacken g. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.

2

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmüller H, Evangelista T. Moreira S, et al. Among authors: mcmacken g. J Neurol. 2017 Jun;264(6):1271-1280. doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26. J Neurol. 2017. PMID: 28550484 Free PMC article.

3

A multi-source approach to determine SMA incidence and research ready population.

Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF, Lochmüller H. Verhaart IEC, et al. Among authors: mcmacken g. J Neurol. 2017 Jul;264(7):1465-1473. doi: 10.1007/s00415-017-8549-1. Epub 2017 Jun 20. J Neurol. 2017. PMID: 28634652 Free PMC article.

4

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. McMacken G, et al. J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30. J Neurol. 2018. PMID: 29189923 Free PMC article.

5

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H. McMacken G, et al. Neuropediatrics. 2017 Aug;48(4):294-308. doi: 10.1055/s-0037-1602832. Epub 2017 May 15. Neuropediatrics. 2017. PMID: 28505670 Review. No abstract available.

6

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.

McMacken G, Whittaker RG, Charlton R, Barresi R, Lochmüller H, Horvath R. McMacken G, et al. Eur J Neurol. 2021 Jan;28(1):297-304. doi: 10.1111/ene.14514. Epub 2020 Sep 26. Eur J Neurol. 2021. PMID: 32909314

7

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

McMacken G, Cox D, Roos A, Müller J, Whittaker R, Lochmüller H. McMacken G, et al. Hum Mol Genet. 2018 May 1;27(9):1556-1564. doi: 10.1093/hmg/ddy062. Hum Mol Genet. 2018. PMID: 29462491 Free PMC article.

8

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmüller H. McMacken GM, et al. Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059. Hum Mol Genet. 2019. PMID: 31220253 Free PMC article.

9

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A. Natera-de Benito D, et al. Among authors: mcmacken g. Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18. Neuromuscul Disord. 2017. PMID: 29054425

10

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Lim AZ, McMacken G, Rastelli F, Oláhová M, Baty K, Hopton S, Falkous G, Töpf A, Lochmüller H, Marini-Bettolo C, McFarland R, Taylor RW. Lim AZ, et al. Among authors: mcmacken g. Neuromuscul Disord. 2020 Aug;30(8):661-668. doi: 10.1016/j.nmd.2020.06.008. Epub 2020 Jun 24. Neuromuscul Disord. 2020. PMID: 32684384 Free PMC article.

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